This is header section in file KinMutBase.html
After this comes data section.
//
ID              ZAP;   ; S518R; c1763a
Accession       K40
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Chan A, Kadlecek TA, Elder ME, Filipovich AH, Kuo W-L, 
RefAuthors      Iwashima M, Parslow TG, Weiss A.
RefTitle        "ZAP-70 deficiecy in an autosomal recessive form of severe 
RefTitle        combined immunodeficiency".
RefLoc          Science 264:1599-1601 
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: L05148; g340038; 1763
Feature          /codon: agc -> aga; 3
Feature          /RC:  -AciI, -CviJI, +HgaI, -TauI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P43403; 518
Feature          /change: S -> R
Feature          /domain: TK
//
ID              ZAP;   ; KWYAP504PNASTSASSPAAAMSGAMGSPCGRPCPTARSPTRR*; aagtggtacgcac1719
Accession       K41
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Elder ME, Lin D, Clever J, Chan AC, Hope TJ, Weiss A, 
RefAuthors      Parslow TG.
RefTitle        "Human severe combined immunodeficiency due to a defect in 
RefTitle        ZAP-70, a T cell tyrosine kinase".
RefLoc          Science 264:1596-1599 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: L05148; g340038; 1719..1731
Feature          /codon: aag -> -; 1
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P43403; 504..508
Feature          /change: KWYAP -> PNASTSASSPAAAMSGAMGSPCGRPCPTARSPTRR*
Feature          /domain: TK
//
ID              TGR2;   ; R537P; g1945c
Accession       K331
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Garrigue-Antar L, Munoz-Antonia T, Antonia SJ, Gesmonde J, Vellucci VF, Reiss M
RefTitle        "Missense mutations of the transforming Growth factor B type II receptor in human head and neck squamus carcinoma cells".
RefLoc          Cancer Research 55:3982-3987 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1945
Feature          /codon: cgc -> ccc; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 537
Feature          /change: R -> P
Feature          /domain: TK
//
ID              TGR2;   ; E526Q; g1911c
Accession       K332
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Garrigue-Antar L, Munoz-Antonia T, Antonia SJ, Gesmonde J, Vellucci VF, Reiss M
RefTitle        "Missense mutations of the transforming Growth factor B type II receptor in human head and neck squamus carcinoma cells".
RefLoc          Cancer Research 55:3982-3987 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1911
Feature          /codon: gag -> cag; 1
Feature          /RC:  +RleAI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 526
Feature          /change: E -> Q
Feature          /domain: TK
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; S227A; t679g
Accession       K318
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutations in the Rsk-2 associated with Coffin-Lowry syndrome".
RefLoc          Nature 384:567-570 (1996).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 679
Feature          /codon: tct -> gct; 1
Feature          /RC:  +FauNDI, +NdeI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 227
Feature          /change: S -> A
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; G75V; g224t
Accession       K317
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutations in the Rsk-2 associated with Coffin-Lowry syndrome".
RefLoc          Nature 384:567-570 (1996).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 224
Feature          /codon: ggg -> gtg; 2
Feature          /RC:  +BsgI, +CviRI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 75
Feature          /change: G -> V
Feature          /domain: TK 1
//
ID              RET PROTO-ONCOGENE; RET;   ; Y806C; a2566g
Accession       K310
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K
RefTitle        "Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the 
RefTitle        same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation"
RefLoc          Japanese Jornal of Cancer research 90:105 (1999)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2566
Feature          /codon: tac -> tgc; 2
Feature          /RC:  -AfaI, +AspLEI, +CfoI, -Csp6I, +HhaI, +Hin6I,
Feature          /RC:  +HinP1I, +HspAI, -RsaI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 806
Feature          /change: Y -> C
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; Y806C; a2566g
Accession       K309
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K
RefTitle        "Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the 
RefTitle        same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation"
RefLoc          Japanese Jornal of Cancer research 90:105 (1999)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2566
Feature          /codon: tac -> tgc; 2
Feature          /RC:  -AfaI, +AspLEI, +CfoI, -Csp6I, +HhaI, +Hin6I,
Feature          /RC:  +HinP1I, +HspAI, -RsaI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 806
Feature          /change: Y -> C
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; Y806C; a2566g
Accession       K308
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Miyauchi A, Futami H, Hai N, Yokozawa T, Kuma K, Aoki N, Kosugi S, Sugano K, Yamaguchi K
RefTitle        "Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the 
RefTitle        same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation"
RefLoc          Japanese Jornal of Cancer research 90:105 (1999)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2566
Feature          /codon: tac -> tgc; 2
Feature          /RC:  -AfaI, +AspLEI, +CfoI, -Csp6I, +HhaI, +Hin6I,
Feature          /RC:  +HinP1I, +HspAI, -RsaI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 806
Feature          /change: Y -> C
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; Y791F; a2521t
Accession       K313
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner W
RefTitle        "A new hot spot for mutations in the ret protooncogene causing familiar medullary 
RefTitle        thyroid carcinoma and multiple endocrine neoplasia type 2A"
RefLoc          Journal of Clinical Endocrinology and Metabolism 83(3):770-774.
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2521
Feature          /codon: tat -> ttt; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 791
Feature          /change: Y -> F
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; S891A; t2820g
Accession       K314
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dang GT, Cote GJ, Schultz, PN, Khorana, S, Decker RA, Gagel RF
RefTitle        "A codon 891 exon 15 RET proto-oncogene mutation in familiar medullary thyroid carcinoma: a detection strategy".
RefLoc          Molecular and Cellular Probes 13:77-79 (1999).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2820
Feature          /codon: tcg -> gcg; 1
Feature          /RC:  -Hpy188IX,
Feature          /occurrence: 3/3
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 891
Feature          /change: S -> A
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; P766S; c2445t
Accession       K315
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Uchino S, Noguchi S, Adachi M, Sato M, Yamashita H, Watanabe S, Murakami T, Toda M, Murakami N, Yamashita T
RefTitle        "Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas".
RefLoc          Japanese Journal of Cancer research 89:411-418 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2445
Feature          /codon: ccg -> tcg; 1
Feature          /RC:  +PaeR7I, +Sfr274I, +SmlI, -Sth132I, +TaqI, +TliI,
Feature          /RC:  +TthHB8I, +XhoI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 766
Feature          /change: P -> S
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; L790F; g2519t
Accession       K311
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner W
RefTitle        "A new hot spot for mutations in the ret protooncogene causing familiar medullary 
RefTitle        thyroid carcinoma and multiple endocrine neoplasia type 2A"
RefLoc          Journal of Clinical Endocrinology and Metabolism 83(3):770-774.
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2519
Feature          /codon: ttg -> ttt; 3
Feature          /RC:  +AcsI, +ApoI, +XapI,
Feature          /occurrence: 3/12
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 790
Feature          /change: L -> F
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; L790F; g2519c
Accession       K312
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, Raue F, Ritter MM, Hoppner W
RefTitle        "A new hot spot for mutations in the ret protooncogene causing familiar medullary 
RefTitle        thyroid carcinoma and multiple endocrine neoplasia type 2A"
RefLoc          Journal of Clinical Endocrinology and Metabolism 83(3):770-774.
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2519
Feature          /codon: ttg -> ttc; 3
Feature          /RC:  +AcsI, +ApoI, +XapI,
Feature          /occurrence: 1/6
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 790
Feature          /change: L -> F
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; A919V; c2905t
Accession       K316
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Uchino S, Noguchi S, Adachi M, Sato M, Yamashita H, Watanabe S, Murakami T, Toda M, Murakami N, Yamashita T
RefTitle        "Novel point mutations and allele loss at the RET locus in sporadic medullary thyroid carcinomas".
RefLoc          Japanese Journal of Cancer research 89:411-418 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2905
Feature          /codon: gca -> gta; 2
Feature          /RC:  -MfeI, -MunI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 919
Feature          /change: A -> V
Feature          /domain: TK
//
ID              LKB1;   ; P281RSLTC*; c842
Accession       K327
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
refNumber       2
RefAuthors      Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watanami M, Yasutomi M, Matsuura N, Monden M, Nakamura Y
RefTitle        "Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome"
RefLoc          Human Genetics 103:168-172 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 842
Feature          /codon: ccg -> -; 2
Feature          /occurrence: 2/2
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 281
Feature          /change: P -> RSLTC*
Feature          /domain: TK
//
ID              LKB1;   ; P281PPAL*; c842c
Accession       K323
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watanami M, Yasutomi M, Matsuura N, Monden M, Nakamura Y
RefTitle        "Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome"
RefLoc          Human Genetics 103:168-172 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 842
Feature          /codon: ccg -> -; 2
Feature          /occurrence: 2/2
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 281
Feature          /change: P -> PPAL*
Feature          /domain: TK
//
ID              LKB1;   ; P281L; c842t
Accession       K325
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 842
Feature          /codon: ccg -> ctg; 2
Feature          /RC:  -AccBSI, -AciI, -BsrBI, -FauI, -MbiI, -Sth132I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 281
Feature          /change: P -> L
Feature          /domain: TK
//
ID              LKB1;   ; N247; aac739
Accession       K321
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watanami M, Yasutomi M, Matsuura N, Monden M, Nakamura Y
RefTitle        "Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome"
RefLoc          Human Genetics 103:168-172 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: inframe
Feature          /loc EMBL: ; ; 739..741
Feature          /codon: aac -> -; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: deletion
Feature          /loc SWISSPROT: ; 247
Feature          /change: N -> 
Feature          /domain: TK
//
ID              LKB1;   ; L245LTTSPRVCTPSKGTTSTSCLRTSGRGATPSRATVAPRSLTC*; c735
Accession       K320
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watanami M, Yasutomi M, Matsuura N, Monden M, Nakamura Y
RefTitle        "Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome"
RefLoc          Human Genetics 103:168-172 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 735
Feature          /codon: ctc -> -; 3
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 245
Feature          /change: L -> LTTSPRVCTPSKGTTSTSCLRTSGRGATPSRATVAPRSLTC*
Feature          /domain: TK
//
ID              LKB1;   ; L140WTACRRSVSQCARPTGTSVS*; c418
Accession       K319
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Nakagawa H, Koyama K, Miyoshi Y, Ando H, Baba S, Watanami M, Yasutomi M, Matsuura N, Monden M, Nakamura Y
RefTitle        "Nine novel germline mutations of STK11 in ten families with Peutz-Jeghers syndrome"
RefLoc          Human Genetics 103:168-172 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 418
Feature          /codon: ctg -> -; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 140
Feature          /change: L -> WTACRRSVSQCARPTGTSVS*
Feature          /domain: TK
//
ID              LKB1;   ; G215D; g644a
Accession       K328
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 644
Feature          /codon: ggc -> gac; 2
Feature          /RC:  -BanII, -BscBI, -BspLI, -Eco24I, -EcoT38I, -FriOI,
Feature          /RC:  -HgiJII, +HinfI, -NlaIV, -PspN4I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 215
Feature          /change: G -> D
Feature          /domain: TK
//
ID              LKB1;   ; G171S; g511a
Accession       K330
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 511
Feature          /codon: ggc -> agc; 1
Feature          /RC:  -Bme1390I, -BsaJI, -BseDI, -BsiLI, -BssECI, -BssKI,
Feature          /RC:  -BstNI, -BstOI, -Bst2UI, -EcoRII, -MspR9I, -MvaI,
Feature          /RC:  -PspGI, -ScrFI, -SecI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 171
Feature          /change: G -> S
Feature          /domain: TK
//
ID              LKB1;   ; G171S; g511a
Accession       K324
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 511
Feature          /codon: ggc -> agc; 1
Feature          /RC:  -Bme1390I, -BsaJI, -BseDI, -BsiLI, -BssECI, -BssKI,
Feature          /RC:  -BstNI, -BstOI, -Bst2UI, -EcoRII, -MspR9I, -MvaI,
Feature          /RC:  -PspGI, -ScrFI, -SecI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 171
Feature          /change: G -> S
Feature          /domain: TK
//
ID              LKB1;   ; E199K; g595a
Accession       K329
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 595
Feature          /codon: gag -> aag; 1
Feature          /RC:  +BalI, +BssT1I, +Eco130I, +EcoT14I, +ErhI, +HaeI,
Feature          /RC:  +MlsI, +MluNI, +MscI, +StyI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 199
Feature          /change: E -> K
Feature          /domain: TK
//
ID              LKB1;   ; D208N; g622a
Accession       K326
Date            29-Sep-1999  (Rel. 1, Created)
Date            29-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Dong SM, Kim KM, Kim SY, Shin MS, Na EY, Lee SH, Park WS, 
RefAuthors      Yoo NJ, Jang JJ, Yoon CY, Kim JW, Kim SY, Yang YM, Kim SH, Kim CS, Lee JY
RefTitle        "Frequent somatic mutations in serine/threonine kinase11/Peutz-Jeghers syndrome gene in left-sided colon cancer"
RefLoc          Cancer Research 58:3787-3790 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 622
Feature          /codon: gac -> aac; 1
Feature          /RC:  +BsbI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 208
Feature          /change: D -> N
Feature          /domain: TK
//
ID              ANGIOPOIETIN 1 RECEPTOR; TIE2;   ; R849W; c2693t
Accession       K66
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Vikkula M, Boon LM, Carraway KL III, Calvert JT, Diamonti AD, 
RefAuthors      Goumnerov B, Pasyk KA, Marchuk DA, Warman ML, Cantley LC, Mulliken JB, Olsen BR.  
RefTitle        "Vascular Dysmorphogenesis Caused by an Activating Mutation 
RefTitle        in the Receptor Tyrosine Kinase TIE2".
RefLoc          Cell 87:1181-1190 (1996).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2693
Feature          /codon: cgg -> tgg; 1
Feature          /RC:  +CjePI, -MaeIII,
Feature          /occurrence: 2/65
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 849
Feature          /change: R -> W
Feature          /domain: TK
//
ID              TGR2;   ; T458A; a1707g
Accession       K61
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Yasumi K., Guo R-J., Hanai H., Arai H., Konno H., Takenoshita S., Hagiwara K., Sugimura H.
RefTitle        "Transforming growth factor B type II receptor (TGFBRII) mutation in gastric lymphoma without mutator phenotype."
RefLoc          Pathology International 48:134-137 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1707
Feature          /codon: aca -> gca; 1
Feature          /RC:  +SfaNI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 458
Feature          /change: T -> A
Feature          /domain: TK
//
ID              TGR2;   ; T315M; c1279t
Accession       K63
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Lu S-L., Kawabata M., Imamura T., Akiyama Y., Nomizu T., Miyazono K., Yuasa Y.
RefTitle        "HNPCC associated with germline mutation in the TGF-B type II receptor gene"
RefLoc          Nature Genetics 19:17-18, (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1279
Feature          /codon: acg -> atg; 2
Feature          /RC:  -BbsI, -BbvII, -BpiI, -BpuAI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 315
Feature          /change: T -> M
Feature          /domain: TK
//
ID              TGR2;   ; D405G; a1549g
Accession       K62
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Knaus P.I., Lindemann D., DeCoteau J.F., Perlman R., Yankelev H., Hille M., Kadin M.E., Lodish H.F.
RefTitle        "A dominant inhibitory mutant of the type III transforming growth factor B receptor in the malignant progression of a cutaneus T-cell lymphoma"
RefLoc          Molecular and Cellular Biology 16(7):3480-3489 (1996).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1549
Feature          /codon: gac -> ggc; 2
Feature          /RC:  +ApaI, -AvaII, +BanII, -Bme18I, +BmgI, +BseSI,
Feature          /RC:  +BshI, +Bsp120I, -BspGI, +BsuRI, +CviJI, +CviTI,
Feature          /RC:  +DraII, +Eco24I, -Eco47I, +EcoO109I, +EcoT38I, +FriOI,
Feature          /RC:  +HaeIII, -HgiEI, +HgiJII, -Hpy178III, +PalI, +PspOMI,
Feature          /RC:  -SinI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 405
Feature          /change: D -> G
Feature          /domain: TK
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; W645*; g1934a
Accession       K307
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 1934
Feature          /codon: tgg -> tag; 2
Feature          /RC:  +BfaI, -Bse1I, -BseNI, -BsrI, -BsrSI, +MaeI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 645
Feature          /change: W -> *
Feature          /domain: TK 2
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; V82F; g244t
Accession       K294
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 244
Feature          /codon: gtt -> ttt; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 82
Feature          /change: V -> F
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; R558*; c1672t
Accession       K306
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 1672
Feature          /codon: cga -> tga; 1
Feature          /RC:  -Asp700I, -AsuII, -Bpu14I, -BsiCI, -Bsp119I, -BstBI,
Feature          /RC:  -CbiI, -Csp45I, -LspI, -MroXI, -NspV, -SfuI,
Feature          /RC:  -TaqI, -TthHB8I, -XmnI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 558
Feature          /change: R -> *
Feature          /domain: TK 2
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;  ; R514*; c1540t
Accession       K305
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 1540
Feature          /codon: cga -> tga; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 514
Feature          /change: R -> *
Feature          /domain: TK 2
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; R305*; c913t
Accession       K303
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 913
Feature          /codon: cga -> tga; 1
Feature          /RC:  -MwoI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 305
Feature          /change: R -> *
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; R273*; c817t
Accession       K302
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 817
Feature          /codon: cga -> tga; 1
Feature          /RC:  -BscFI, -Bsp143I, -DpnI, -DpnII, -Kzo9I, -MboI,
Feature          /RC:  -NdeII, -Sau3AI, -TaqI, -TthHB8I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 273
Feature          /change: R -> *
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; R112*; c334t
Accession       K299
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 334
Feature          /codon: cga -> tga; 1
Feature          /RC:  +BstDEI, +DdeI, -TaqII,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 112
Feature          /change: R -> *
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; R110*; c328t
Accession       K298
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 328
Feature          /codon: cga -> tga; 1
Feature          /RC:  -Hpy178III, -TaqI, -TthHB8I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P51812; 110
Feature          /change: R -> *
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; M99RRY*; t296
Accession       K295
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 296
Feature          /codon: atg -> -; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P51812; 99
Feature          /change: M -> RRY*
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; I88SQALMLGSFMP*; a262
Accession       K296
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 262
Feature          /codon: atc -> -; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P51812; 88
Feature          /change: I -> SQALMLGSFMP*
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; H127Q; t381g
Accession       K297
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 381
Feature          /codon: cat -> cag; 3
Feature          /RC:  +CviJI, +CviTI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 127
Feature          /change: H -> Q
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; G431D; g1292a
Accession       K304
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1292
Feature          /codon: ggc -> gac; 2
Feature          /RC:  -BscBI, -BspLI, -CviJI, -CviTI, +HincII, +HindII,
Feature          /RC:  +HinfI, +MjaIV, -NlaIV, -PspN4I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 431
Feature          /change: G -> D
Feature          /domain: TK 2
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; D154Y; g460t
Accession       K300
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 460
Feature          /codon: gat -> tat; 1
Feature          /RC:  -BseRI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 154
Feature          /change: D -> Y
Feature          /domain: TK 1
//
ID              RIBOSOMAL PROTEIN S6 KINASE II ALPHA 3; RSK2;   ; A225V; c674t
Accession       K301
Date            27-Sep-1999  (Rel. 1, Created)
Date            27-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jacquot S, Merienne K, De Cesare D, Pannetier S, Mandel J-L, Sassone-Corsi P, Hanauer A
RefTitle        "Mutation analysis of the RSK2 gene in Coffin-Lowry Patients: extensive allelic heterogeneity and a high rate of de novo mutations".
RefLoc          American Journal of Human Genetics 63:1631-1640 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 674
Feature          /codon: gca -> gta; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P51812; 225
Feature          /change: A -> V
Feature          /domain: TK 1
//
ID              RET PROTO-ONCOGENE; RET;   ; Y791F; a2521t
Accession       K48
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, 
RefAuthors      Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A, Ponder BAJ, 
RefAuthors      Lyonnet S.
RefTitle        "Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic Hirschprung disease".
RefLoc          Hum. Mol. Genet. 4(8):1381-1386) (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2521
Feature          /codon: tat -> ttt; 2
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 791
Feature          /change: Y -> F
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; W942Q; g2974a
Accession       K54
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, 
RefAuthors      Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A, Ponder BAJ, 
RefAuthors      Lyonnet S.
RefTitle        "Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic Hirschprung disease".
RefLoc          Hum. Mol. Genet. 4(8):1381-1386) (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2974
Feature          /codon: tgg -> tag; 2
Feature          /RC:  +BfmI, +BstSFI, +EcoNI, +SfcI, +SfeI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 942
Feature          /change: W -> Q
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; V804M; g2559a
Accession       K49
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Fatturuso O, Quadro L, Libroia A, Verga U, Lupoli G, Cascone E, 
RefAuthors      Colantuoni V.
RefTitle        "RET proto-oncogene in two families affected by familial 
RefTitle        medullary thyroid carcinoma".
RefLoc          Human mutation online 
RefNumber       2
RefLoc          72 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2559
Feature          /codon: gtg -> atg; 1
Feature          /RC:  +Hsp92II, +NlaIII,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 804
Feature          /change: V -> M
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; V804L; g2559t
Accession       K50
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Bolino A, Schuffenecker I, Luo Y, Seri M, Silengo M, Tocco T, 
RefAuthors      Chabrier G, Houdent C, Murat A, Sclumberger M, Tourniaire J, 
RefAuthors      Lenoir GM, Romeo G.
RefTitle        "RET mutations in exons 13 and 14 of FMTC patients".
RefLoc          Oncogene 10:2415-2419 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2559
Feature          /codon: gtg -> ttg; 1
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 804
Feature          /change: V -> L
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; S922Y; c2914a
Accession       K53
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Kitamura Y, Scavarda N, Wells SA, Jackson CE, Goodfellow PJ.
RefTitle        "Two maternally derived missense mutations in the tyrosine 
RefTitle        kinase domain of the RET protooncogene in a patient with de 
RefTitle        novo MEN 2B".
RefLoc          Hum. Mol. Genet. 4(10):1987-1988) (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2914
Feature          /codon: tcc -> tac; 2
Feature          /RC:  -HinfI, -TfiI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 922
Feature          /change: S -> Y
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; S765P; t2442c
Accession       K44
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, 
RefAuthors      Pasini B, Bocciardi R, Lerone M, Kaariainen H Martuciello G.
RefTitle        "Point mutations affecting the tyrosine kinase domain of the 
RefTitle        RET proto-oncogene in Hirschprung's disease".
RefLoc          Nature 367:377-378 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2442
Feature          /codon: tcc -> ccc; 1
Feature          /RC:  -BplI, -MnlI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 765
Feature          /change: S -> P
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; R972G; a3063g
Accession       K46
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, 
RefAuthors      Pasini B, Bocciardi R, Lerone M, Kaariainen H Martuciello G.
RefTitle        "Point mutations affecting the tyrosine kinase domain of the 
RefTitle        RET proto-oncogene in Hirschprung's disease".
RefLoc          Nature 367:377-378 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 3063
Feature          /codon: agg -> ggg; 1
Feature          /RC:  +AspS9I, +AsuI, +BscBI, +BsiZI, +BspLI, +Cfr13I,
Feature          /RC:  -HaeI, +NlaIV, +PspN4I, +Sau96I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 972
Feature          /change: R -> G
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; R897Q; g2839a
Accession       K45
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Romeo G, Ronchetto P, Luo Y, Barone V, Seri M, Ceccherini I, 
RefAuthors      Pasini B, Bocciardi R, Lerone M, Kaariainen H Martuciello G.
RefTitle        "Point mutations affecting the tyrosine kinase domain of the 
RefTitle        RET proto-oncogene in Hirschprung's disease".
RefLoc          Nature 367:377-378 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2839
Feature          /codon: cga -> caa; 2
Feature          /RC:  -Ama87I, -AvaI, -BcoI, -BsoBI, -Eco88I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 897
Feature          /change: R -> Q
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; P973L; c3067t
Accession       K43
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, 
RefAuthors      Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, 
RefAuthors      Abramowicz MJ, Kristofferson U, Larsson LT, Hamel BCJ, 
RefAuthors      Silengo M, Martuciello G, Romeo G.
RefTitle        "Heterogeneity and low detection rate of RET mutations in 
RefTitle        Hirschsprung disease".
RefLoc          Eur. J. Genet. 2:272-280 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 3067
Feature          /codon: cca -> cta; 2
Feature          /RC:  +BfaI, -BshI, -BsuRI, -HaeI, -HaeIII, +MaeI,
Feature          /RC:  -PalI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 973
Feature          /change: P -> L
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; M918T; t2902c
Accession       K51
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, 
RefAuthors      Wells SA, Goodfellow PJ, Donis-Keller H.
RefTitle        "Single missense mutation in the tyrosine kinase catalytic 
RefTitle        domain of the RET protooncogene is associated withmultiple 
RefTitle        endocrine neoplasia type 2B".
RefLoc          Pcoc. Natl. Acad. Sci. USA 91:1579-1583 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2902
Feature          /codon: atg -> acg; 2
Feature          /RC:  +BcefI, -BseGI, -BstF5I, -FokI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 918
Feature          /change: M -> T
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; E921*; g2910t
Accession       K52
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Attie T, Pelet A, Edery P, Eng C, Mulligan LM, Amiel J, 
RefAuthors      Boutrand L, Beldjord C, Nihoul-Fekete C, Munnich A, Ponder BAJ, 
RefAuthors      Lyonnet S.
RefTitle        "Diversity of RET proto-oncogene mutations in familial and 
RefTitle        sporadic Hirschprung disease".
RefLoc          Hum. Mol. Genet. 4(8):1381-1386 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 2910
Feature          /codon: gaa -> taa; 1
Feature          /RC:  -HinfI, -MfeI, +MseI, -MunI, -TfiI, +Tru1I,
Feature          /RC:  +Tru9I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P07949; 921
Feature          /change: E -> *
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; E768D; g2453c
Accession       K47
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Eng C, Smith DP, Mulligan LM, Healey CS, Zvelebil M, 
RefAuthors      Stonehouse TJ, Ponder MA, Jackson CE, Waterfield MD, Ponder BAJ.
RefTitle        "A novel point mutation in the tyrosine kinase domain of the 
RefTitle        RET proto-oncogene in sporadic medullary thyroid carcinoma and 
RefTitle        in a family with FMTC".
RefLoc          Oncogene 10:509-513 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2453
Feature          /codon: gag -> gac; 3
Feature          /RC:  -AluI, -CviJI, +MaeIII, +Tsp45I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 768
Feature          /change: E -> D
Feature          /domain: TK
//
ID              RET PROTO-ONCOGENE; RET;   ; E762Q; g2433c
Accession       K42
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Yin L, Barone V, Seri M, Bolino A, Bocciardi R, Ceccherini I, 
RefAuthors      Pasini B, Tocco T, Lerone M, Cywes S, Moore S, Vanderwinden JM, 
RefAuthors      Abramowicz MJ, Kristofferson U, Larsson LT, Hamel BCJ, 
RefAuthors      Silengo M, Martuciello G, Romeo G.
RefTitle        "Heterogeneity and low detection rate of RET mutations in 
RefTitle        Hirschsprung disease".
RefLoc          Eur. J. Genet. 2:272-280 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2433
Feature          /codon: gag -> cag; 1
Feature          /RC:  -BplI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P07949; 762
Feature          /change: E -> Q
Feature          /domain: TK
//
ID              PAK3;   ; R419*; c1255t
Accession       K65
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Allen KM, Gleeson J, Bagrodia S, Partington MW, MacMillan JC
RefAuthors      Cerione RA, Mulley JC, Walsh CA. 
RefTitle        "PAK3 mutation in nonsyndromic X-linked mental retardation".
RefLoc          Nature Genetics 20:25-30
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 1255
Feature          /codon: cga -> tga; 1
Feature          /RC:  -MjaIV,
Feature          /occurrence: 1/4
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 419
Feature          /change: R -> *
Feature          /domain: TK
//
ID              NTRK1;   ; R643W; c2047t
Accession       K80
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossars P, Moosa A, Ismail EAR, Macaya A, Andria C, Toscano E, Gibson W, Graham GE, Indo Y..
RefTitle        "Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor". 
RefLoc          Am. J. Hum. Genet. 64:1570-1579 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2047
Feature          /codon: cgg -> tgg; 1
Feature          /RC:  -AsuC2I, -BcnI, +BfiI, -Bme1390I, +BmrI, -Bsc4I,
Feature          /RC:  +Bse1I, -BseLI, +BseNI, -BsiSI, -BsiYI, -BslI,
Feature          /RC:  +BsrI, +BsrSI, -BssKI, -CauII, -HapII, -HpaII,
Feature          /RC:  -MspI, -MspR9I, -NciI, -ScrFI, +TspRI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 643
Feature          /change: R -> W
Feature          /domain: TK
//
ID              NTRK1;   ; R548GRTSNVRLSCSPCCSTSTSCASSASAPRAAPCSWSSSICGTGTSTASSDPMDPMPSCWLVGRMWLQAPWVWGSCWPWLARSLRGWCTWRVCILCTGTWPHATV*; c1762
Accession       K79
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Yotsumoto S, Setoyami M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T
RefTitle        "A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhydrosis".
RefLoc          The Journal of Investigative Dermatology 112(5):810-814 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 1762
Feature          /codon: cgg -> -; 1
Feature          /occurrence: 2/4
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 548
Feature          /change: R -> GRTSNVRLSCSPCCSTSTSCASSASAPRAAPCSWSSSICGTGTSTASSDPMDPMPSCWLVGRMWLQAPWVWGSCWPWLARSLRGWCTWRVCILCTGTWPHATV*
Feature          /domain: TK
//
ID              NTRK1;   ; M581V; a1861g
Accession       K78
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Yotsumoto S, Setoyami M, Hozumi H, Mizoguchi S, Fukumaru S, Kobayashi K, Saheki T, Kanzaki T
RefTitle        "A novel point mutation affecting the tyrosine kinase domain of the TRKA gene in a family with congenital insensitivity to pain with anhydrosis".
RefLoc          The Journal of Investigative Dermatology 112(5):810-814 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1861
Feature          /codon: atg -> gtg; 1
Feature          /RC:  -Hsp92II, -NlaIII,
Feature          /occurrence: 1/3
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 581
Feature          /change: M -> V
Feature          /domain: TK
//
ID              NTRK1;   ; H598Y; c1912t
Accession       K82
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossars P, Moosa A, Ismail EAR, Macaya A, Andria C, Toscano E, Gibson W, Graham GE, Indo Y..
RefTitle        "Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor". 
RefLoc          Am. J. Hum. Genet. 64:1570-1579 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1912
Feature          /codon: cat -> tat; 1
Feature          /RC:  -BsaJI, -BseDI, -Bsp19I, -BssECI, -BssT1I, -BstDSI,
Feature          /RC:  -DsaI, -Eco130I, -EcoT14I, -ErhI, -Hsp92II, -NcoI,
Feature          /RC:  -NlaIII, -SecI, -StyI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 598
Feature          /change: H -> Y
Feature          /domain: TK
//
ID              NTRK1;   ; G708S; g2242a
Accession       K81
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossars P, Moosa A, Ismail EAR, Macaya A, Andria C, Toscano E, Gibson W, Graham GE, Indo Y..
RefTitle        "Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor". 
RefLoc          Am. J. Hum. Genet. 64:1570-1579 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 2242
Feature          /codon: ggc -> agc; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 708
Feature          /change: G -> S
Feature          /domain: TK
//
ID              NTRK1;   ; G607V; g1940t
Accession       K83
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Mardy S, Miura Y, Endo F, Matsuda I, Sztriha L, Frossars P, Moosa A, Ismail EAR, Macaya A, Andria C, Toscano E, Gibson W, Graham GE, Indo Y..
RefTitle        "Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor". 
RefLoc          Am. J. Hum. Genet. 64:1570-1579 (1999).        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1940
Feature          /codon: ggt -> gtt; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 607
Feature          /change: G -> V
Feature          /domain: TK
//
ID              NTRK1;   ; G571R; g1831c
Accession       K39
Date            5-Mar-1998  (Rel. 1, Created)
Date            5-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Indo Y, Tsuruta M, Hayashida Y, Karim MA, Ohta K, Kawano T, 
RefAuthors      Mitsubichi H, Tonoki H, Awaya Y, Matsuda I.
RefTitle        "Mutations in the TRKA/NGF receptor gene in patients with 
RefTitle        congenital insensitivity to pain with anhidrosis".
RefLoc          Nature genetetics 13:485-488 (1996)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1831
Feature          /codon: ggc -> cgc; 1
Feature          /RC:  +AccII, +AciI, -AcyI, -BbiII, -BsaHI, +Bsh1236I,
Feature          /RC:  -BstACI, +BstUI, +FnuDII, -Hin1I, -Hsp92I, -Msp17I,
Feature          /RC:  +MvnI, +ThaI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 571
Feature          /change: G -> R
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; Y1230H; t3882c
Accession       K37
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3882
Feature          /codon: tat -> cat; 1
Feature          /RC:  -AflIII, +AvaIII, -BspLU11I, +CviRI, +EcoT22I, +Mph1103I,
Feature          /RC:  +NsiI, +Ppu10I, +Zsp2I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1230
Feature          /change: Y -> H
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; Y1230C; a3883g
Accession       K34
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3883
Feature          /codon: tat -> tgt; 2
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1230
Feature          /change: Y -> C
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; V1220I; g3852a
Accession       K32
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3852
Feature          /codon: gtt -> att; 1
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1220
Feature          /change: V -> I
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; V1188L; g3756t
Accession       K31
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3756
Feature          /codon: gta -> tta; 1
Feature          /RC:  +Sse9I, +Tsp509I, +TspEI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1188
Feature          /change: V -> L
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; M1250T; t3943c
Accession       K38
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3943
Feature          /codon: atg -> acg; 2
Feature          /RC:  +BcefI, -BseGI, -BstF5I, -FokI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1250
Feature          /change: M -> T
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; M1131T; t3586c
Accession       K30
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3586
Feature          /codon: atg -> acg; 2
Feature          /RC:  -BspHI, -Hsp92II, -NlaIII, -RcaI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1131
Feature          /change: M -> T
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; L1195V; c3777g
Accession       K35
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3777
Feature          /codon: ctt -> gtt; 1
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1195
Feature          /change: L -> V
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; D1228N; g3876a
Accession       K33
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3876
Feature          /codon: gac -> aac; 1
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1228
Feature          /change: D -> N
Feature          /domain: TK
//
ID              MET PROTO-ONCOGENE; MET: ;   ; D1228H; g3876c
Accession       K36
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Schmidt L, Duh F-M, Chen F, Kishida T, Glenn G, Choyke P, 
RefAuthors      Scherer SW, Zhuang Z, Lubensky I, Dean M, Allikmets R, 
RefAuthors      Chidambaram A, Bergerheim UR, Feltis JT, Casadevall C, 
RefAuthors      Zamarron A, Bernues M, Richard S, Lips CJM, Walther MM, 
RefAuthors      Tsui L-C, Geil L, Orcutt ML, Stackhouse T, Lipan J, Slife L, 
RefAuthors      Brauch H, Decker J, Niehans G, Hughson MD, Moch H, Storkel S, 
RefAuthors      Lerman MI, Linehan WM, Zbar B.
RefTitle        "Germline and somatic mutations in the tyrosine kinase domain 
RefTitle        of the MET proto-oncogene in papillary renal carcinomas".
RefLoc          Nature genetics 16:68-73 (1997)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X54559; g34557; 3876
Feature          /codon: gac -> cac; 1
Feature          /RC:  +MslI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P08581; 1228
Feature          /change: D -> H
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; K642SPELPW*; aa1946
Accession       K26
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Spritz RA, Giebel LB, Holmes SA.
RefTitle        "Dominant negative and loss of function mutations of the c-kit
RefTitle        (mast/stem cell growth factor receptor) proto-oncogene in human 
RefTitle        piebaldism".
RefLoc          Am. J. Hum. Genet. 50:261-269 (1992)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: X06182; g34084; 1946..1947
Feature          /codon: aaa -> -; 2
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P10721; 642
Feature          /change: K -> SPELPW*
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; H650P; a1970c
Accession       K23
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Ezoe K, Holmes SA, Ho L, Bennet CP, Bolognia JL, Brueton L, 
RefAuthors      Burn J, Falabella R, Gatto EM, Ishii N, Moss C, Pittelkow MR, 
RefAuthors      Thompson E, Ward KA, Spritz RA.
RefTitle        "Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism".
RefLoc          Am. J. Hum. Genet. 56:58-66 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 1970
Feature          /codon: cac -> ccc; 2
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 650
Feature          /change: H -> P
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; H630QFDRTGSPHV*; t1911a
Accession       K27
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Ezoe K, Holmes SA, Ho L, Bennet CP, Bolognia JL, Brueton L, 
RefAuthors      Burn J, Falabella R, Gatto EM, Ishii N, Moss C, Pittelkow MR, 
RefAuthors      Thompson E, Ward KA, Spritz RA.
RefTitle        "Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism".
RefLoc          Am. J. Hum. Genet. 56:58-66 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: X06182; g34084; 1911
Feature          /codon: cat -> -; 3
Feature          /occurrence: 2/2
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P10721; 630
Feature          /change: H -> QFDRTGSPHV*
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; H630Q; t1911a
Accession       K22
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Ezoe K, Holmes SA, Ho L, Bennet CP, Bolognia JL, Brueton L, 
RefAuthors      Burn J, Falabella R, Gatto EM, Ishii N, Moss C, Pittelkow MR, 
RefAuthors      Thompson E, Ward KA, Spritz RA.
RefTitle        "Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism".
RefLoc          Am. J. Hum. Genet. 56:58-66 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 1911
Feature          /codon: cat -> caa; 3
Feature          /RC:  +MfeI, +MunI, +Sse9I, +Tsp509I, +TspEI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 630
Feature          /change: H -> Q
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; G664R; g2011a
Accession       K25
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Giebel LB, Spritz RA
RefTitle        "Mutation of the KIT (mast/stem cell growth factor receptor) 
RefTitle        protooncogene in human piebaldism".
RefLoc          Proc. Natl. Acad. Sci. USA 88:8696-8699 (1991)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 2011
Feature          /codon: ggg -> agg; 1
Feature          /RC:  -ApaI, -BanII, -BmgI, -BscBI, -Bsp120I, -BspLI,
Feature          /RC:  -DraII, -Eco24I, -EcoO109I, -EcoT38I, -FriOI, -HgiJII,
Feature          /RC:  -NlaIV, -PspN4I, -PspOMI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 664
Feature          /change: G -> R
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; E861A; a2603c
Accession       K24
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Ezoe K, Holmes SA, Ho L, Bennet CP, Bolognia JL, Brueton L, 
RefAuthors      Burn J, Falabella R, Gatto EM, Ishii N, Moss C, Pittelkow MR, 
RefAuthors      Thompson E, Ward KA, Spritz RA.
RefTitle        "Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism".
RefLoc          Am. J. Hum. Genet. 56:58-66 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 2603
Feature          /codon: gag -> gcg; 2
Feature          /RC:  -AluI, +AspLEI, -BplI, +Bsp143II, +BstH2I, +CfoI,
Feature          /RC:  -CviJI, +HaeII, +HhaI, +Hin6I, +HinP1I, +HspAI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 861
Feature          /change: E -> A
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; D820G; a2480g
Accession       K28
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Pignon J-M, Giraudier S, Duquesnoy P, Jpualt H, Imbert M, 
RefAuthors      Vainchenker W, Vernant J-P, Tulliez M.
RefTitle        "A new c-kit mutation in a case of agressive mast cell disease".
RefLoc          Br. J. haem. 96:374-376 (1997
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 2480
Feature          /codon: gat -> ggt; 2
Feature          /RC:  -HinfI, -TfiI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 820
Feature          /change: D -> G
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; D816V; a2468t
Accession       K29
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Furitsu T, Tsujimura T, Tono T, Ikeda H, Kitayama H, 
RefAuthors      Koshimizu U, Sugahara H, Butterfield JH, Ashman LK, Kanayama Y, 
RefAuthors      Matsuzawa Y, Kitamura Y, Kanakura Y.
RefTitle        "Identification of mutations in the coding sequence of the 
RefTitle        proto-oncogene c-kit in a human mast cell leukemia cell line 
RefTitle        causing ligand-independent activation of c-kit product".
RefLoc          J. Clin. Invest. 92:1736-1744 (1933)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 2468
Feature          /codon: gac -> gtc; 2
Feature          /RC:  +HinfI, +PleI,
Feature          /occurrence: 3/6
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 816
Feature          /change: D -> V
Feature          /domain: TK
//
ID              MAST/STEM CELL GROWTH FACTOR RECEPTOR; KKIT;   ; A621T; g1882a
Accession       K21
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Ezoe K, Holmes SA, Ho L, Bennet CP, Bolognia JL, Brueton L, 
RefAuthors      Burn J, Falabella R, Gatto EM, Ishii N, Moss C, Pittelkow MR, 
RefAuthors      Thompson E, Ward KA, Spritz RA.
RefTitle        "Novel mutations and deletions of the KIT (steel factor 
RefTitle        receptor) gene in human piebaldism".
RefLoc          Am. J. Hum. Genet. 56:58-66 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: X06182; g34084; 1882
Feature          /codon: gct -> act; 1
Feature          /RC:  +MaeIII, +Tsp45I, +TspRI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P10721; 621
Feature          /change: A -> T
Feature          /domain: TK
//
ID              LKB1;   ; Y60*; c180g
Accession       K75
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).         
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 180
Feature          /codon: tac -> tag; 3
Feature          /RC:  -BcefI, +BstDEI, +DdeI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 60
Feature          /change: Y -> *
Feature          /domain: TK
//
ID              LKB1;   ; Y253*; c759a
Accession       K69
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jenne DE, Reimann H, Nezu J-I, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M.   
RefTitle        "Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase".  
RefLoc          Nature Genetics 18:38-43 (1998). 
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 759
Feature          /codon: tac -> taa; 3
Feature          /RC:  -AfaI, -Csp6I, +MaeIII, -RsaI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 253
Feature          /change: Y -> *
Feature          /domain: TK
//
ID              LKB1;   ; WS239WLGSPSTTSPRVCTPSKGTTSTSCLRTSGRGATPSRATVAPRSLTC*; ggtc716
Accession       K68
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jenne DE, Reimann H, Nezu J-I, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M.   
RefTitle        "Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase".  
RefLoc          Nature Genetics 18:38-43 (1998). 
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 716..719
Feature          /codon: tgg -> -; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 239..240
Feature          /change: WS -> WLGSPSTTSPRVCTPSKGTTSTSCLRTSGRGATPSRATVAPRSLTC*
Feature          /domain: TK
//
ID              LKB1;   ; Q170*; c508t
Accession       K67
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Guldberg P, Straten PT, Ahrenkiel V, Seremet T, Kirkin A, Zeuthen J.   
RefTitle        Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.
RefLoc          Cell Oncogene 18:1777-1780 (1999).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 508
Feature          /codon: cag -> tag; 1
Feature          /RC:  +AluI, +BfaI, -Bme1390I, -BsaJI, -BseDI, -BsiLI,
Feature          /RC:  -BssECI, -BssKI, -BstNI, -BstOI, -Bst2UI, -EcoRII,
Feature          /RC:  +MaeI, -MspR9I, -MvaI, -PspGI, -ScrFI, -SecI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 170
Feature          /change: Q -> *
Feature          /domain: TK
//
ID              LKB1;   ; P281PSLTC*; g843
Accession       K70
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Jenne DE, Reimann H, Nezu J-I, Friedel W, Loff S, Jeschke R, Muller O, Back W, Zimmer M.   
RefTitle        "Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase".  
RefLoc          Nature Genetics 18:38-43 (1998). 
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: ; ; 843
Feature          /codon: ccg -> -; 3
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: ; 281
Feature          /change: P -> PSLTC*
Feature          /domain: TK
//
ID              LKB1;   ; L67P; t200c
Accession       K74
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).         
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 200
Feature          /codon: ctg -> ccg; 2
Feature          /RC:  +AccB1I, +BanI, +BscBI, +BshNI, +BsiSI, -BspGI,
Feature          /RC:  +BspLI, +Eco64I, +HapII, +HgiCI, +HpaII, +MspI,
Feature          /RC:  +NlaIV, +PspN4I,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 67
Feature          /change: L -> P
Feature          /domain: TK
//
ID              LKB1;   ; K84*; a250t
Accession       K76
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).         
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 250
Feature          /codon: aag -> tag; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 84
Feature          /change: K -> *
Feature          /domain: TK
//
ID              LKB1;   ; IRQH303N; tccggcagc908
Accession       K77
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).         
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: inframe
Feature          /loc EMBL: ; ; 908..916
Feature          /codon: atc -> -; 2
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: deletion
Feature          /loc SWISSPROT: ; 303..306
Feature          /change: IRQH -> N
Feature          /domain: TK
//
ID              LKB1;   ; G163D; g488a
Accession       K64
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Avizienyte E., Roth S., Loukola A., Hemminki A., Lothe R. A., Stenwig A.E., Fossa S.D., Salovaara R., Aaltonen L.A.
RefTitle        "Somatic Mutations in LKB1 are rare in sporadic colorectal and testicular tumors"
RefLoc          Cance Research 58:2087-2090 (1998)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 488
Feature          /codon: ggc -> gac; 2
Feature          /RC:  -BcefI, -BshI, -BsuRI, -CviJI, -CviTI, -HaeIII,
Feature          /RC:  -PalI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 163
Feature          /change: G -> D
Feature          /domain: TK
//
ID              LKB1;   ; E70*; g208t
Accession       K73
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).         
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 208
Feature          /codon: gag -> tag; 1
Feature          /RC:  +AccI, +FblI, -Hpy188IX, +MjaIV, +Pfl1108I, +XmiI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 70
Feature          /change: E -> *
Feature          /domain: TK
//
ID              LKB1;   ; E57*; g169t
Accession       K72
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hemminki A, Markie D, Tomlinson I, Avizienyte, Roth S, Loukola A
RefAuthors      Bignell G, Warren W, Aminoff M, Hoglund P, Jarvinen H, Kristo P
RefAuthors      Pelin M, Ridanpaa M, Salovaara R, Toro T, Bodmer W, Olschwang S,
RefAuthors      Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA.        
RefTitle        "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome"       
RefLoc          Nature 391:184-187 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: ; ; 169
Feature          /codon: gaa -> taa; 1
Feature          /RC:  -Bsc4I, -BseLI, -BsiYI, -BslI, +HgiEII,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: ; 57
Feature          /change: E -> *
Feature          /domain: TK
//
ID              LKB1;   ; D194Y; g580t
Accession       K71
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Guldberg P, Straten PT, Ahrenkiel V, Seremet T, Kirkin A, Zeuthen J.   
RefTitle        Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma.
RefLoc          Cell Oncogene 18:1777-1780 (1999).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 580
Feature          /codon: gac -> tac; 1
Feature          /RC:  -Hpy188IX, -MmeI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 194
Feature          /change: D -> Y
Feature          /domain: TK
//
ID              KIR3;   ; R411Q; g1514a
Accession       K59
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Johnson D.W., Berg J.N., Baldwin M.A., Gallione C.J., Marondel U., Yoon S-J., Stenzel T.R., Speer M., Pericak-Vance M.A., Diamond A., Guttmacher A.E., Jackson C.E., Attisano L., Kucherlapati R., Porteous M.E.M., Marchuk D.A.
RefTitle        "Mutations in the activin receptor-like minase 1 gene in Hereditary hemorrhagic telangiectasia type 2."
RefLoc          Nature genetics 13:189-195, 1996
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1514
Feature          /codon: cgg -> cag; 2
Feature          /RC:  -AspS9I, -AsuI, -AvaII, -Bme18I, -BsiSI, -BsiZI,
Feature          /RC:  -Cfr13I, -Eco47I, -HapII, -HgiEI, -HpaII, -MspI,
Feature          /RC:  -Sau96I, -SinI,
Feature          /occurrence: 1/9
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 411
Feature          /change: R -> Q
Feature          /domain: TK
//
ID              KIR3;   ; R374W; c1402t
Accession       K56
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Berg J.N, Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P.,Schwartz C.E., Jackson C.E., Porteous M.E.M., Mrchuk D.A.
RefTitle        "The Activin Receptor-Like Kinase 1 gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2."
RefLoc          Am. J. Hum. Genet. 61:60-67, 1997
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1402
Feature          /codon: cgg -> tgg; 1
Feature          /RC:  +AdeI, +DraIII,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 374
Feature          /change: R -> W
Feature          /domain: TK
//
ID              KIR3;   ; P424T; c1552a
Accession       K57
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Berg J.N, Gallione C.J., Stenzel T.T., Johnson D.W., Allen W.P.,Schwartz C.E., Jackson C.E., Porteous M.E.M., Mrchuk D.A.
RefTitle        "The Activin Receptor-Like Kinase 1 gene: Genomic Structure and Mutations in Hereditary Hemorrhagic Telangiectasia Type 2."
RefLoc          Am. J. Hum. Genet. 61:60-67, 1997
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1552
Feature          /codon: ccc -> acc; 1
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 424
Feature          /change: P -> T
Feature          /domain: TK
//
ID              KIR3;   ; M376R; t1409g
Accession       K58
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Johnson D.W., Berg J.N., Baldwin M.A., Gallione C.J., Marondel U., Yoon S-J., Stenzel T.R., Speer M., Pericak-Vance M.A., Diamond A., Guttmacher A.E., Jackson C.E., Attisano L., Kucherlapati R., Porteous M.E.M., Marchuk D.A.
RefTitle        "Mutations in the activin receptor-like minase 1 gene in Hereditary hemorrhagic telangiectasia type 2."
RefLoc          Nature genetics 13:189-195, 1996
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 1409
Feature          /codon: atg -> agg; 2
Feature          /RC:  +BseSI, -Hsp92II, -NlaIII, -XcmI,
Feature          /occurrence: 1/7
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 376
Feature          /change: M -> R
Feature          /domain: TK
//
ID              JANUS KINASE 3; JAK3;   ; KKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVIRDLNSLISS733KTMSSSQTPHLVPWHLVMGCGMVPSSMPAKTPRSSRRDTSSTSHSWARATLAAWSCAAMTRQPTIQVPWWP*; gaaactccaattttatgaggaccggcagcagctgccggcccccaagtggacagagctggccctgctgattcaacagtgcatggcctatgagccggtccagaggccctccttccgagccgtcattcgtgacctcaatagcctcatctcttca2294
Accession       K55
Date            6-Mar-1998  (Rel. 1, Created)
Date            6-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, 
RefAuthors      Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, Vezzoni P, 
RefAuthors      Notarangelo LD.
RefTitle        "Mutations of JAK-3 gene in patients with autosomal severe 
RefTitle        combined immune deficiency (SCID)".
RefLoc          Nature 377:65-68
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: U09607; g508730; 2294..2444
Feature          /codon: aag -> -; 3
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P52333; 733..783
Feature          /change: KKLQFYEDRQQLPAPKWTELALLIQQCMAYEPVQRPSFRAVIRDLNSLISS -> KTMSSSQTPHLVPWHLVMGCGMVPSSMPAKTPRSSRRDTSSTSHSWARATLAAWSCAAMTRQPTIQVPWWP*
Feature          /domain: TK 1
//
ID              JANUS KINASE 3; JAK3;   ; C759R; t2370c
Accession       K20
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, 
RefAuthors      Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo L, 
RefAuthors      Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, 
RefAuthors      Villa A.
RefTitle        "Structural and functional basis for JAK3-deficient severe 
RefTitle        combined immunodeficiency".
RefLoc          Blood 90(10):3996-4003)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: U09607; g508730; 2370
Feature          /codon: tgc -> cgc; 1
Feature          /RC:  +AspLEI, -Bst4CI, +CfoI, -CviRI, +HhaI, +Hin6I,
Feature          /RC:  +HinP1I, +HspAI, -Tsp4CI, -TspRI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P52333; 759
Feature          /change: C -> R
Feature          /domain: TK 1
//
ID              JANUS KINASE 3; JAK3;   ; C565*; c1790a
Accession       K19
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Russel SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, 
RefAuthors      Migone T-S, Noguchi M, Markert ML, Buckley RH, O'Shea JJ, 
RefAuthors      Leonard WJ.
RefTitle        "Mutation of JAK3 in a patient with SCID: Essential role of 
RefTitle        JAK3 in lymphoid development".
RefLoc          Scence 270:797-800
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: nonsense
Feature          /loc EMBL: U09607; g508730; 1790
Feature          /codon: tgc -> tga; 3
Feature          /RC:  -CviRI, -Hsp92II, -NlaIII,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: premature termination
Feature          /loc SWISSPROT: P52333; 565
Feature          /change: C -> *
Feature          /domain: TK 1
//
ID              INSULIN RECEPTOR; IRK;   ; W1227S; g3818c
Accession       K17
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Moller DE, Flier JS.
RefTitle        "Detection of an alteration in the insulin-receptor gene in a 
RefTitle        patient with insulin recistance, acanthosis nigricans, and the 
RefTitle        polycystic ovary syndrome (type A insulin resistance).
RefLoc          N. Engl. J. Med. 319(23):1526-1529
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3818
Feature          /codon: tgg -> tcg; 2
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1227
Feature          /change: W -> S
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; W1220L; g3797t
Accession       K16
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Imamura T, Takata Y, Sasaoka T, Takada Y, Morioka H, Haruta T,
RefAuthors      Sawa T, Iwanishi M, Hu YG, Suzuki Y, Hamada J, Kobayashi M.
RefTitle        "Two naturally occuring mutations in the kinase domain of 
RefTitle        insulin receptor accelerate degradation of the insulin receptor 
RefTitle        and impair the kinase assay".
RefLoc          J. Biol. Chem 269(49):31019-31027)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3797
Feature          /codon: tgg -> ttg; 2
Feature          /RC:  -AspS9I, -AsuI, -AvaII, -Bme18I, -BsiZI, -Cfr13I,
Feature          /RC:  -Eco47I, -HgiEI, -Sau96I, -SinI,
Feature          /occurrence: 2/5
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1220
Feature          /change: W -> L
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; R1201Q; g3740a
Accession       K13
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Moritz W, Froesh ER, Boni-Schnetzler M.
RefTitle        "Functional properties of a heterozygous mutation 
RefTitle        (arg 1174 -> gln) in the tyrosine kinase domain of the insulin 
RefTitle        receptor from a typa A insulin resistant patient".
RefLoc          FEBS Letters 351:276-280 (1994) 
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3740
Feature          /codon: cgg -> cag; 2
Feature          /RC:  +AauI, +Bsp1407I, +BsrGI, +SspBI, +TatI, +TspRI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1201
Feature          /change: R -> Q
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; R1191Q; g3710a
Accession       K12
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Cocozza S, Porcellini A, Riccardi G, Monticelli A, Condorelli G
RefAuthors      Ferrara A, Pianese L, Miele C, Capaldo B, Beguinot F, Varrone S.
RefTitle        "NIDDM associated with mutation in tyrosine kinase domain of 
RefTitle        insulin receptor gene".
RefLoc          Diabetes 41:521-526
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3710
Feature          /codon: cgg -> cag; 2
Feature          /RC:  -BetI, -BsaWI, -BsiSI, -HapII, -Hin2I, -HpaII,
Feature          /RC:  -MspI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1191
Feature          /change: R -> Q
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; R1158Q; g3611a
Accession       K8
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Kishimoto M, Hashiramoto M, Yonezawa K, Shii K, Kazumi T,
RefAuthors      Kasuga M.
RefTitle        "Substitution of glutamine for arginine 1131".
RefLoc          J Biol. Chem. 269(15):11349-11355 (1994)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3611
Feature          /codon: cgg -> cag; 2
Feature          /RC:  +AlwNI, -BscBI, -BsmFI, -BspLI, -FinI, -NlaIV,
Feature          /RC:  -PspN4I, +Sse8647I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1158
Feature          /change: R -> Q
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; P1205L; c3752t
Accession       K14
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Kim H, Kadowaki H, Sakura H, Odawara M, Komomura K, Takahashi Y,
RefAuthors      Miyazaki Y, Ohtani T, Akanuma Y, Yazaki Y, Kasuga M, Taylor SI, 
RefAuthors      Kadowaki T.
RefTitle        "Detection of mutations in the insulin receptor gene in 
RefTitle        patients with insulin resistance by analysis of single-stranded
RefTitle        conformational polymorphisms".
RefLoc          Diabetologia 35:261-266 (1992)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3752
Feature          /codon: ccg -> ctg; 2
Feature          /RC:  -AccB1I, -BanI, -BetI, +BpmI, -BsaWI, -BscBI,
Feature          /RC:  +Bse1I, +BseNI, -BshNI, -BsiSI, -BspLI, +BsrI,
Feature          /RC:  +BsrSI, -Eco64I, +GsuI, -HapII, -HgiCI, -Hin2I,
Feature          /RC:  -HpaII, -MspI, -NlaIV, -PspN4I, +TspRI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1205
Feature          /change: P -> L
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; M1180I; g3678a
Accession       K11
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Cama A, Sierra MdlL, Ottini L, Kadowaki T, Gorden P, 
RefAuthors      Imperato-McGinley J, Taylor SI.
RefTitle        "A mutation in the tyrosine kinase domain of the insulin
RefTitle        receptor associated with insulin resistance in an obese woman".
RefLoc          J. Clin. Endocr. & Metabol. 73(4):894-901 (1991)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3678
Feature          /codon: atg -> ata; 3
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1180
Feature          /change: M -> I
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; M1136IFRWRQRLLTGWPT*; g3546
Accession       K18
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Kadowaki H, Takakashi Y, Ando A, Momomura K, Kaburagi Y, 
RefAuthors      Quin JD, MacCuish AC, Koda N, Fukushima Y, Taylor SI, Akanuma Y,
RefAuthors      Yazaki Y, Kadowaki T.
RefTitle        "Four mutant alleles of the insulin receptor gene associated 
RefTitle        with genetic syndromes of extreme insulin resistance".
RefLoc          Biochem Biophys Res Commun 237:516-520 (1997)
RefNote      
RefNote         NOTE!!: Article termination at +10, here calculated +13!!!!
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: frameshift
Feature          /loc EMBL: M10051; g186439; 3546
Feature          /codon: atg -> -; 3
Feature          /occurrence: 2/2 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: out-of-frame extension
Feature          /loc SWISSPROT: P06213; 1136
Feature          /change: M -> IFRWRQRLLTGWPT*
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; K1095E; a3421g
Accession       K7
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      O'Rahilly S, Choi WH, Patel P, Turner RC, Flier JS, Moller DE.
RefTitle        "Detection of mutations in insulin-receptor gene in NIDDM 
RefTitle        patients by analysis of single-stranded conformation 
RefTitle        polymorphisms".
RefLoc          Diabetes 40:777-782 (1991)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3421
Feature          /codon: aag -> gag; 1
Feature          /RC:  -BssT1I, -Eco130I, -EcoT14I, -ErhI, -StyI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1095
Feature          /change: K -> E
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; E1206D; g3756c
Accession       K15
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Imamura T, Takata Y, Sasaoka T, Takada Y, Morioka H, Haruta T,
RefAuthors      Sawa T, Iwanishi M, Hu YG, Suzuki Y, Hamada J, Kobayashi M.
RefTitle        "Two naturally occuring mutations in the kinase domain of 
RefTitle        insulin receptor accelerate degradation of the insulin receptor 
RefTitle        and impair the kinase assay".
RefLoc          J. Biol. Chem 269(49):31019-31027)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3756
Feature          /codon: gag -> gac; 3
Feature          /RC:  -PleI,
Feature          /occurrence: 1/2
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1206
Feature          /change: E -> D
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; A1162E; c3623a
Accession       K10
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Cama A, Sierra MdlL, Quon MJ, Ottini L, Gorden P, Taylor SI.
RefTitle        "Substitution of glutamic acid for alanine 1135 in the putative
RefTitle        "catalytic loop" of the tyrosine kinase domain of the human 
RefTitle        insulin receptor".
RefLoc          J. Biol. Chem. 268(11):8060-8069 (1993)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3623
Feature          /codon: gcg -> gag; 2
Feature          /RC:  -BbvI, -Bst71I, -Fnu4HI, -Fsp4HI, -ItaI, -TseI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1162
Feature          /change: A -> E
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; A1161T; g3619a
Accession       K9
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Moller DE, Yokota A, White MF, Pazianos AG, Flier JS.
RefTitle        A naturally occuring mutation of insulin receptor alanine 1134 
RefTitle        impairs tyrosine kinase function and is associated with 
RefTitle        dominantly inherited insulin resistance".
RefLoc          J. Biol. Chem 265(25):14979-14985 (1990)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3619
Feature          /codon: gca -> aca; 1
Feature          /RC:  -BbvI, -BsiLI, -BssKI, -Bst71I, -BstNI, -BstOI,
Feature          /RC:  -Bst2UI, -EcoRII, -Fnu4HI, -Fsp4HI, -ItaI, -MspR9I,
Feature          /RC:  -MvaI, -ScrFI, -TseI,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1161
Feature          /change: A -> T
Feature          /domain: TK
//
ID              INSULIN RECEPTOR; IRK;   ; A1075D; c3362a
Accession       K6
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Haruta T, Takata Y, Iwanishi M, Maegawa H, Imamura T, Egawa K,
RefAuthors      Itatzu T, Kobayashi M.
RefTitle        "Ala 1048 ->Asp mutation in the kinase domain of insulin receptor 
RefTitle        causes defective kinase activity and insulin resistance".
RefLoc          Biabetes 42:1837-1844 (1993)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M10051; g186439; 3362
Feature          /codon: gcc -> gac; 2
Feature          /RC:  -AatI, +AspI, -BsaJI, -BseDI, -BshI, -BsuRI,
Feature          /RC:  -CviJI, -Eco147I, -HaeI, -HaeIII, +HinfI, -PalI,
Feature          /RC:  +PflFI, -Pme55I, -SecI, -SseBI, -StuI, +Tth111I,
Feature          /occurrence: 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P06213; 1075
Feature          /change: A -> D
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; N540T; a1658c
Accession       K1
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Deutz-Terlouw PP, Losekoot M, Aalfs CM, Hennekam RCM, Bakker E. 
RefTitle        "Asn540Thr substitution in the fibroblast growth factor receptor
RefTitle        3 tyrosine kinase domain causing hypochondroplasia".
RefLoc          Human mutation 
RefNumber       2
RefLoc          37 (1997).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1658
Feature          /codon: aac -> acc; 2
Feature          /RC:  -BspMI,
Feature          /occurrence: 1 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 540
Feature          /change: N -> T
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; N540K; c1659g
Accession       K3
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Prinos P, Costa T, Sommer A, Kilpatrick MW, Tsipouras P.
RefTitle        "A common FGFR3 gene mutation in hypochondroplasia".
RefLoc          Hum. Mol. Gen. 4(11):2097-2101 (1995)
RefNumber       2
RefAuthors      Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, 
RefAuthors      Weissenbach J, Munnich A, Le Merrer
 M
RefTitle        "Clinical and genetic heterogeneity of hypochondroplasia".
RefLoc          J. Med. Genet. 33:749-752 (1996)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1659
Feature          /codon: aac -> aag; 3
Feature          /RC:  +AluI, -BspMI, +CviJI, +Fnu4HI, +Fsp4HI, +ItaI,
Feature          /RC:  +TseI,
Feature          /occurrence: 2/2 
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 540
Feature          /change: N -> K
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; N540K; c1659a
Accession       K2
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Bellus GA, Mcintosh I, Smith EA, Aylsworth AS, Kaitila I, 
RefAuthors      Horton WA, Greenhaw GA, Hecht JT, Francomano CA.
RefTitle        "A recurrent mutation in the tyrosine kinase domain of 
RefTitle        fibroblast growth factor receptor 3 causes hypochondroplasia".
RefLoc          Nature Genetics 10:357-359 (1995)
RefNumber       2
RefAuthors      Rousseau F, Bonaventure J, Legeai-Mallet L, Schmidt H, 
RefAuthors      Weissenbach J, Munnich A, Le Merrer
 M
RefTitle        "Clinical and genetic heterogeneity of hypochondroplasia".
RefLoc          J. Med. Genet. 33:749-752 (1996)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1659
Feature          /codon: aac -> aaa; 3
Feature          /RC:  -BspMI,
Feature          /occurrence: 19/19
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 540
Feature          /change: N -> K
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; K650M; a1988t
Accession       K5
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Francomano CA, Bellus GA, Szabo J, Mcintosh I, Dorst J, Lee R,
RefAuthors      Hurko O, Fraley AE, Bamshad MJ.
RefTitle        "A new sceletal dysplasia with severe tibial bowing, profound 
RefTitle        developmental delay and acanthosis nigricans is caused by a 
RefTitle        lys 650 met mutation in fibroblast growth factor receptor 3 
RefTitle        (FGFR3)".
RefLoc          Am. J. Hum. Genet. 59(suppl) A25 (1996)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1988
Feature          /codon: aag -> atg; 2
Feature          /RC:  -BbsI, -BbvII, -BpiI, -BpuAI, -MboII,
Feature          /occurrence: 2/2
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 650
Feature          /change: K -> M
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; K650E; a1987g
Accession       K4
Date            2-Mar-1998  (Rel. 1, Created)
Date            2-Mar-1998  (Rel. 1, Last updated, Version 1)
RefNumber       1
MEDLINE; 95291326 .
RefAuthors      Tavormina PL, Shiang R, Thompson LM, Zhu Y-Z, Wilkin DJ, Lachman RS, 
RefAuthors      Wilcox WR, Rimoin DL, Cohn DH, Wasmuth JJ.
RefTitle        "Thanatophoric dysplasia (types I and II) caused by distinct
RefTitle        mutations in fibroblast growth factor receptor 3".
RefLoc          Nature genetics 9:321-328 (1995)
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1987
Feature          /codon: aag -> gag; 1
Feature          /RC:  -BbsI, -BbvII, -BpiI, -BpuAI, -MboII,
Feature          /occurrence: 16/16
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 650
Feature          /change: K -> E
Feature          /domain: TK
//
ID              FIBROBLAST GROWTH FACTOR RECEPTOR-3; FGFR3;;   ; I538V; a1651g
Accession       K84
Date            19-Sep-1999  (Rel. 1, Created)
Date            19-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Hagenas L, Eklof O, Neumeyer L, Haerid PE, Anvret M 
RefTitle        "A novel missense mutation ile538val in the fibroblast growth factor receptor 3 in hypochondroplasia".
RefLoc          Human Mutation, Mutation in brief #122 (1997) Online        
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: M58051; g182568; 1651
Feature          /codon: atc -> gtc; 1
Feature          /RC:  +MaeII, +TaiI, +TscI,
Feature          /occurrence: 1/3
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: P22607; 538
Feature          /change: I -> V
Feature          /domain: TK
//
ID              CDK4;   ; R24H; g298a
Accession       K86
Date            20-Sep-1999  (Rel. 1, Created)
Date            20-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Soufir N, Avril M-F, Chompret A, Demenais F, Bombled J, Spatz A, Stoppa-Lyonnet D, The French Familial Melanoma Study Group, Benard J, Bresssac-de Paillerets B.
RefTitle        "Prevalence of p16 and CDK4 germline mutations in 48 melanoma-prone families in France". 
RefLoc          Human Molecular Genetics 7(2):209-216 (1998).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 298
Feature          /codon: cgt -> cat; 2
Feature          /RC:  -BscGI, +Hsp92II, +NlaIII, -Sth132I,
Feature          /occurrence: 1/4
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 24
Feature          /change: R -> H
Feature          /domain: TK
//
ID              CDK4;   ; R24C; c297t
Accession       K60
Date            22-Aug-1999  (Rel. 1, Created)
Date            22-Aug-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Zuo L., Weger J., Yang Q., Goldstein A.M., Tucker M.A., Walker G.J., Hayward N., Dracopoli N.C.
RefTitle        "Germline mutations in the P16-ink4a binding domain of CDK4 in familial melanoma."
RefLoc          Nature Genetics 12:97-99 (1996).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 297
Feature          /codon: cgt -> tgt; 1
Feature          /RC:  +AatI, -AspS9I, -AsuI, -BscGI, -BsiZI, -Cfr13I,
Feature          /RC:  +Eco147I, +HaeI, +Pme55I, -Sau96I, +SseBI, -Sth132I,
Feature          /RC:  +StuI,
Feature          /occurrence: 11/11
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 24
Feature          /change: R -> C
Feature          /domain: TK
//
ID              CDK4;   ; N41S; a349g
Accession       K85
Date            20-Sep-1999  (Rel. 1, Created)
Date            20-Sep-1999  (Rel. 1, Last updated, Version 1)
RefNumber       1
RefAuthors      Guldberg P, Kirkin AF, Gronbak K, Straten PT, Ahrenkiel V, Zeuthen J.
RefTitle        "Complete scanning of the CDK4 gene by denaturing gradient gel 
RefTitle        electroforesis: a novel missense mutation but low overall frequency of mutations in sporadic metastatic malignant melanoma".
RefLoc          International Journal of Cancer 72:780-783 (1997).
Feature         rna; 1
Feature          /aalink; 2
Feature          /name: missense
Feature          /loc EMBL: ; ; 349
Feature          /codon: aat -> agt; 2
Feature          /RC:  +TspRI,
Feature          /occurrence: 1/1
Feature         aa; 2
Feature          /rnalink: 1
Feature          /name: substitution
Feature          /loc SWISSPROT: ; 41
Feature          /change: N -> S
Feature          /domain: TK
//
Kinaasi mutaatioita : 227
Erilaisia :  195
ID              BTK_HUMAN;    ;@S378X403; AQISSVSTKQECTFHCRPGIRIMGNX
Occurrence 1/1
Accession       K69
DBCrossRef      BTKbase:A0166
Original code   F(III-1)
Description     frameshift insertion in the exon 13 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95353280
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(4):296-302(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 63921
Feature           /change: dublication of preceding 16 bp
Feature           /genomic_region:  exon; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1264
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 378..403
Feature           /change: SQQNKNAPST AGLGYGSWEI DPKDLT -> 
Feature           /change: AQISSVSTKQ ECTFHCRPGI RIMGNX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             nd
IgE             nd
IgG             < 10%
IgM             nd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;Q379X; QX
Occurrence 1/1
Accession       K70
DBCrossRef      BTKbase:A0334
Original code   DM
Description     nonsense mutation in the exon 13 leading to
Description     stop codon in SH2 domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 63924
Feature           /change: c -> t
Feature           /genomic_region: exon; 13
Feature           /RE: +MseI, +Tru1I, +Tru9I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1267
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 379
Feature           /change: Q -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             1.5
IgA             < 0.07
IgG             0.61
IgM             0.17
CD19            1
Comment         -!-Symptoms: recurrent urinary tract infections, 
Comment            hemorrhagic cystitis
//
ID              BTK_HUMAN;    ;G391G; GG
Occurrence 1/1
Accession       K71
DBCrossRef      BTKbase:A0495
Original code   1420
Description     point mutation in the exon 13 creating cryptic 
Description     splice site
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 63962
Feature           /change: a -> g
Feature           /genomic_region: exon;13
Feature           /RE: +AfaI, +Csp6I, +RsaI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: silent
Feature           /loc: EMBL: X58957; G312467; HSATK: 1305
Feature           /codon: gga -> ggg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: no change
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 391
Feature           /change: G -> G
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;F404X; 
Occurrence 2/2
Accession       K72
DBCrossRef      BTKbase:A0059
Original code   R525Q(3a)
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0031
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: unknown
Feature           /changeLength: +16 bp
Feature           /genomic_region: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: unknown
Feature           /codon: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature stop
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: unknown
Feature           /domain: TK
Protein struct  distortion of catalytic site; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
Relative        BTK; A0060
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;#F404-1; F
Occurrence 1/1
Accession       K74
DBCrossRef      BTKbase:A0496
Original code   1426
Description     deletion in the exon 14
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 64552
Feature           /change: ttc -> 
Feature           /genomic_region: exon;14
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: inframe
Feature           /loc: EMBL: X58957; G312467; HSATK: 1342..1344
Feature           /codon: ttc -> -; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 404
Feature           /change: F -> 
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#F404-1; F
Occurrence 1/1
Accession       K75
DBCrossRef      BTKbase:A0497
Original code   1427
Description     deletion in the exon 14
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 64552
Feature           /change: ttc -> 
Feature           /genomic_region: exon;14
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: inframe
Feature           /loc: EMBL: X58957; G312467; HSATK: 1342..1344
Feature           /codon: ttc -> -; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 404
Feature           /change: F -> 
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;L408P; LP
Occurrence 2/2
Accession       K76
DBCrossRef      BTKbase:A0053
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0032
DB CrossRef     SWISSCHANGE; BTK_HUMAN_32
DB CrossRef     SWISS-PROT; Q06187:408_408
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64565
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature           /RE: +AsuC2I, +BcnI, +BsaJI, +Bsc4I, +BscBI, +BseDI, 
Feature           /RE: +BseLI, +BsiSI, +BsiYI, +BslI, +BspLI, +BssECI, 
Feature           /RE: +BssKI, +CauII, +HapII, +HpaII, +MspI, +MspR9I, 
Feature           /RE: +NciI, +NgoGV, +NlaIV, +PspN4I, +ScrFI, +SecI, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1355
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 408
Feature           /change: L -> P
Feature           /domain: TK
Protein struct  destroys beta-sheet structure; ref [2]
Symptoms        moderate XLA
Sex             XY
Relative        BTK; A0054
B cells surf Ig low
//
ID              BTK_HUMAN;    ;@T410X439; YWTIWGSEVWEMERPVRRGHQDDQRRLHVX
Occurrence 1/1
Accession       K78
DBCrossRef      BTKbase:A0237
Original code   58
Description     frameshift insertion in the exon 14 leading to
Description     stop codon in TK domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; EL 0045 M81 G1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 64570
Feature           /change: +g
Feature           /genomic_region:  exon; 14
Feature           /RE: +Bse1I, +BseNI, +BsmFI, +BspGI, +BsrI, +BsrSI, 
Feature           /RE: +FinI, +Sse9I, +TasI, +Tsp509I, +TspEI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1360
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 410..439
Feature           /change: TGQFGVVKYG KWRGQYDVAI KMIKEGSMSE ->
Feature           /change: YWTIWGSEVW EMERPVRRGH QDDQRRLHVX
Feature           /domain: TK
mRNA level      nd
Protein struct  premature stop
Sex             XY
//
ID              BTK_HUMAN;    ;G414R; GR
Occurrence 1/1
Accession       K79
DBCrossRef      BTKbase:A0335
Original code   ZT
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64582
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1372
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 414
Feature           /change: G -> R
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             1
IgA             0.01
IgG             0.24
IgM             0.26
CD19            2
Comment         -!-Symptoms: otitis, cellulitis, airway infections
//
ID              BTK_HUMAN;    ;Y418H; YH
Occurrence 1/1
Accession       K80
DBCrossRef      BTKbase:A0198
Original code   JB
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_33
DB CrossRef     SWISS-PROT; Q06187:418_418
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64594
Feature           /change: t -> c
Feature           /genomic_region: exon; 14
Feature           /RE: +Hsp92II, +NlaIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1384
Feature           /codon: tat -> cat; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 418
Feature           /change: Y -> H
Feature           /domain: TK
Protein struct  disturbs domain-domain interactions; ref [2]
Symptoms        moderate XLA
Sex             XY
//
ID              BTK_HUMAN;    ;W421X; WX
Occurrence 1/1
Accession       K81
DBCrossRef      BTKbase:A0336
Original code   RM
Description     nonsense mutation in the exon 14 leading to
Description     stop codon in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64605
Feature           /change: g -> a
Feature           /genomic_region: exon; 14
Feature           /RE: +MboII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1395
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 421
Feature           /change: W -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             4
IgA             0.03
IgG             1.80
IgM             0.17
CD19            0
Comment         -!-Symptoms: sinusitis, airway infections
//
ID              BTK_HUMAN;    ;Y425X; YX
Occurrence 1/1
Accession       K82
DBCrossRef      BTKbase:A0025
Original code   JL6
Description     nonsense mutation in the exon 14 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94214435
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
DB CrossRef     OMIM; 300300.0033
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64617
Feature           /change: c -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1407
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 425
Feature           /change: Y -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
Comment         -!-Family history: affected maternal uncle
//
ID              BTK_HUMAN;    ;Y425X; YX
Occurrence 1/1
Accession       K83
DBCrossRef      BTKbase:A0309
Original code   P22
Description     nonsense mutation in the exon 14 leading to
Description     stop codon in TK domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64617
Feature           /change: c -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1407
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 425
Feature           /change: Y -> X
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             1
Ethnic origin   Mongoloid; Japan
Family history  inherited; ref [2]
IgA             < 0.15
IgG             1.40
IgM             < 0.30
B cells surf Ig 0
//
ID              BTK_HUMAN;    ;I429N; IN
Occurrence 1/1
Accession       K84
DBCrossRef      BTKbase:A0203
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96177680
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_34
DB CrossRef     SWISS-PROT; Q06187:429_429
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64628
Feature           /change: t -> a
Feature           /genomic_region: exon; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1418
Feature           /codon: atc -> aac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 429
Feature           /change: I -> N
Feature           /domain: TK
mRNA level      normal
Protein struct  disturbs domain-domain interactions; ref [2]
Sex             XY
//
ID              BTK_HUMAN;    ;K430E; KE
Occurrence 1/1
Accession       K85
DBCrossRef      BTKbase:A0003
Original code   B
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 93140868
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0002
DB CrossRef     SWISSCHANGE; BTK_HUMAN_35
DB CrossRef     SWISS-PROT; Q06187:430_430
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64630
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature           /RE: +TaqI, +TthHB8I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1420
Feature           /note: generates TaqI site
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> E
Feature           /domain: TK
Protein struct  disturbs ATP binding; ref [2]
Symptoms        classical XLA
Sex             XY
//
ID              BTK_HUMAN;    ;K430E; KE
Occurrence 1/1
Accession       K86
DBCrossRef      BTKbase:A0238
Original code   18
Description     missense mutation in the exon 14 leading to
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; EL 0240 M57 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_35
DB CrossRef     SWISS-PROT; Q06187:430_430
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64630
Feature           /change: a -> g
Feature           /genomic_region: exon; 14
Feature           /RE: +TaqI, +TthHB8I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1420
Feature           /note: generates TaqI site
Feature           /codon: aag -> gag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> E
Feature           /domain: TK
mRNA level      reduced
Protein struct  disturbs ATP binding; ref [2]
Sex             XY
//
ID              BTK_HUMAN;    ;K430R; KR
Occurrence 1/1
Accession       K87
DBCrossRef      BTKbase:A0466
Original code   14.40
Description     point in the exon 14 amino acid change in domain TK
Date            25-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E.
RefTitle        Neutropenia in X-linked agammaglobulinemia 
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64631
Feature           /change: a -> g
Feature           /genomic_region: exon;14
Feature           /RE: +BseGI, +BstF5I, +FokI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1421
Feature           /codon: aag -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 430
Feature           /change: K -> R
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  de novo; ref [2]
Comment         -!-Symptoms: neutropenia
//
ID              BTK_HUMAN;    ;E441X; EX
Occurrence 2/2
Accession       K88
DBCrossRef      BTKbase:A0213
Original code   P14
Description     nonsense mutation in the exon 14 leading to
Description     stop codon in TK domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96431154
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64663
Feature           /change: g -> t
Feature           /genomic_region: exon; 14
Feature           /RE: +AseI, +AsnI, +MseI, +PshBI, +Tru1I, +Tru9I, 
Feature           /RE: +VspI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1453
Feature           /codon: gaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 441
Feature           /change: E -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             4
Relative        BTK; A0310; cousin
IgA             < 0.04
IgM             < 0.04
B cells surf Ig 0
//
ID              BTK_HUMAN;    ;E445D; ED
Occurrence 1/1
Accession       K90
DBCrossRef      BTKbase:A0498
Original code   1445
Description     point in the exon 14 causing amino acid change in 
Description     domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64677
Feature           /change: a -> c
Feature           /genomic_region: exon;14
Feature           /RE: +AcyI, +BbsI, +BbvII, +BpiI, +BpuAI, +BsaHI, 
Feature           /RE: +BstACI, +DrdI, +DseDI, +HgaI, +Hin1I, +Hsp92I, 
Feature           /RE: +Msp17I, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1467
Feature           /codon: gaa -> gac; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 445
Feature           /change: E -> D
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#L452X454; LLPX
Occurrence 1/1
Accession       K91
DBCrossRef      BTKbase:A0133
Original code   52; ZIE
Description     frameshift deletion in the exon 15 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 65213..65214
Feature           /change: -tt
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1488..1489
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 452
Feature           /change: L -> LPX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Q459X; QX
Occurrence 1/1
Accession       K92
DBCrossRef      BTKbase:A0311
Original code   P10
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65232
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1507
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 459
Feature           /change: Q -> X
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             5
Ethnic origin   Mongoloid; Japan
Family history  de novo
IgA             0.017
IgG             2.38
IgM             0.08
B cells surf Ig 0.1
//
ID              BTK_HUMAN;    ;L460X; LX
Occurrence 1/1
Accession       K93
DBCrossRef      BTKbase:A0293
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            18-May-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (30-May-1996) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65236
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1511 
Feature           /codon: ttg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 460
Feature           /change: L -> X
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;L460X; LX
Occurrence 1/1
Accession       K94
DBCrossRef      BTKbase:A0499
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            28-Apr-1998 (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minigichi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk in patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65236
Feature           /change: t -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1511 
Feature           /codon: ttg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 460
Feature           /change: L -> X
Feature           /domain: TK
Sex             XY
Family history  sporadic
//
ID              BTK_HUMAN;    ;G462D; GD
Occurrence 1/1
Accession       K95
DBCrossRef      BTKbase:A0431
Original code   G8301
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65242
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature           /RE: +AatII, +MaeII, +TaiI, +TscI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1517
Feature           /note: generates Aat II site
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 462
Feature           /change: G -> D
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; UK
Family history  inherited
//
ID              BTK_HUMAN;    ;G462V; GV
Occurrence 1/1
Accession       K96
DBCrossRef      BTKbase:A0432
Original code   G14721
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65242
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1517
Feature           /note: destroys BsaHI site
Feature           /codon: ggc -> gtc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 462
Feature           /change: G -> V
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             1
Ethnic origin   Caucasoid; Portugal
Family history  inherited
IgA             < 7
IgG             < 8
IgM             < 29.8
CD19            0
//
ID              BTK_HUMAN;    ;#Y476X; YX
Occurrence 1/1
Accession       K97
DBCrossRef      BTKbase:A0239
Original code   11
Description     frameshift deletion in the exon 15 leading to
Description     stop codon in TK domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; DE 0174 M80 G1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 65285
Feature           /change: -c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1560
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 476
Feature           /change: Y -> X
Feature           /domain: TK
mRNA level      reduced
Protein struct  premature stop
Sex             XY
//
ID              BTK_HUMAN;    ;Y476D; YD
Occurrence 1/1
Accession       K98
DBCrossRef      BTKbase:A0167
Original code   D(III-2)
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95353280
RefAuthors      Hagemann, T. L., Rosen, F. S., Kwan, S. P.
RefTitle        Characterization of germline mutations of the gene
RefTitle        encoding Bruton's tyrosine kinase in families with X-linked
RefTitle        agammaglobulinemia
RefLoc          Hum. Mutat. 5(4):296-302(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_36
DB CrossRef     SWISS-PROT; Q06187:476_476
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65283
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1558
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 476
Feature           /change: Y -> D
Feature           /domain: TK
Protein struct  affects ATP binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             nd
IgE             nd
IgG             < 10%
IgM             nd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;Y476D; YD
Occurrence 1/1
Accession       K99
DBCrossRef      BTKbase:A0271
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            13-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Dr. Igor Resnick, Department of Clinical Immunology,
RefLoc          Research Institute for Paediatric Hematology, 
RefLoc          Central RepublicanPaediatric Hospital, 
RefLoc          Leninsky Pr. 117, Moscow 117513, Russia.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_36
DB CrossRef     SWISS-PROT; Q06187:476_476
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65283
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1558
Feature           /codon: tac -> gac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 476
Feature           /change: Y -> D
Feature           /domain: TK
Protein struct  affects ATP binding; ref [2]
Symptoms        classical XLA
Sex             XY
Age             0.75
IgA             0
IgG             1.9
IgM             0.13
CD19            <1
CD20            <1
Comment         -!-Symptoms: first severe infection at the age of 
Comment            5.5 months
//
ID              BTK_HUMAN;    ;M477R; MR
Occurrence 1/1
Accession       K100
DBCrossRef      BTKbase:A0204
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96177680
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_37
DB CrossRef     SWISS-PROT; Q06187:477_477
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65287
Feature           /change: t -> g
Feature           /genomic_region: exon; 15
Feature           /RE: +AspS9I, +AsuI, +BsiZI, +Cfr13I, +Sau96I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1562
Feature           /codon: atg -> agg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 477
Feature           /change: M -> R
Feature           /domain: TK
Protein struct  affects ATP binding; ref [2]
Sex             XY
//
ID              BTK_HUMAN;    ;#F493X499; FSRLSSCX
Occurrence 1/1
Accession       K101
DBCrossRef      BTKbase:A0433
Original code   G8868
Description     deletion in the exon 15 leading to
Description     stop codon in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 65333
Feature           /change: -c
Feature           /genomic_region: exon; 15
Feature           /RE: +Bst4CI, +TaaI, +Tsp4CI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1608
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 493
Feature           /change: F -> SRLSSCX
Feature           /domain: TK
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Q497X; QX
Occurrence 1/1
Accession       K102
DBCrossRef      BTKbase:A0312
Original code   P2
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65346
Feature           /change: c -> t
Feature           /genomic_region: exon; 15
Feature           /RE: +CjeI, +Fnu4HI, +Fsp4HI, +ItaI, +TseI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1621
Feature           /codon: cag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 497
Feature           /change: Q -> X
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             2.58
Ethnic origin   Mongoloid; Japan
Family history  de novo
IgA             0.05
IgG             2.00
IgM             0.25
B cells surf Ig 0.1
//
ID              BTK_HUMAN;    ;C502X; CX
Occurrence 1/1
Accession       K103
DBCrossRef      BTKbase:A0055
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0034
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65363
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1638
Feature           /codon: tgc -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;C502F; CF
Occurrence 1/1
Accession       K104
DBCrossRef      BTKbase:A0182
Original code   21
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_38
DB CrossRef     SWISS-PROT; Q06187:502_502
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65362
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1637
Feature           /codon: tgc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> F
Feature           /domain: TK
Protein struct  affects stabilizing interactions; ref [2]
Symptoms        moderate XLA
Sex             XY
//
ID              BTK_HUMAN;    ;C502F; CF
Occurrence 1/1
Accession       K105
DBCrossRef      BTKbase:A0183
Original code   25
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_38
DB CrossRef     SWISS-PROT; Q06187:502_502
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65362
Feature           /change: g -> t
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1637
Feature           /codon: tgc -> ttc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> F
Feature           /domain: TK
Protein struct  affects stabilizing interactions; ref [2]
Sex             XY
//
ID              BTK_HUMAN;    ;C502W; CW
Occurrence 1/1
Accession       K106
DBCrossRef      BTKbase:A0313
Original code   P5
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            14-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_39
DB CrossRef     SWISS-PROT; Q06187:502_502
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65363
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1638
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> W
Feature           /domain: TK
Protein level   much reduced; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             2.75
Ethnic origin   Mongoloid; Japan
Family history  de novo
IgA             < 0.06
IgG             1.95
IgM             0.37
B cells surf Ig 0.2
//
ID              BTK_HUMAN;    ;C502W; CW
Occurrence 1/1
Accession       K107
DBCrossRef      BTKbase:A0314
Original code   P6
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            14-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_39
DB CrossRef     SWISS-PROT; Q06187:502_502
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65363
Feature           /change: c -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1638
Feature           /codon: tgc -> tgg; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 502
Feature           /change: C -> W
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             5
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             0.05
IgG             1.11
IgM             0.20
B cells surf Ig 0
//
ID              BTK_HUMAN;    ;C506R; CR
Occurrence 1/1
Accession       K108
DBCrossRef      BTKbase:A0071
Original code   79
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0035
DB CrossRef     SWISSCHANGE; BTK_HUMAN_40
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65373
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1648
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> R
Feature           /domain: TK
Protein struct  affects stabilizing interactions, charge effect; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;C506R; CR
Occurrence 1/1
Accession       K109
DBCrossRef      BTKbase:A0289
Original code   166; 4-15-8
Description     missense mutation in the exon 15
Description     amino acid change in TK domain
Date            15-May-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-May-1996) to the BTKbase
RefLoc          Dr. Jerrold H. Schwaber, Hahnemann University, Broad & Wine
RefLoc          Philadelphia, PA 19102, USA, 
RefLoc          e-mail schwaberj@hal.hahnemann.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_40
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65373
Feature           /change: t -> c
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1648
Feature           /codon: tgt -> cgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506 
Feature           /change: C -> R
Feature           /domain: TK
Protein struct  affects stabilizing interactions, charge effect; ref [2]
Symptoms        mild XLA
Sex             XY
Age             0.83 
Family history  inherited
IgA             nd
IgG             10
IgM             45
B cells surf Ig 8
//
ID              BTK_HUMAN;    ;C506Y; CY
Occurrence 1/1
Accession       K110
DBCrossRef      BTKbase:A0026
Original code   Z122
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94214435
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1649
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> Y
Feature           /domain: TK
Protein struct  affects stabilizing interactions; ref [2]
Sex             XY
Family history  inherited
Comment         -!-Family history: mutation introduced by a healthy male 
Comment            (mosaicism)
//
ID              BTK_HUMAN;    ;C506Y; CY
Occurrence 1/1
Accession       K111
DBCrossRef      BTKbase:A0184
Original code   PK
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1649
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> Y
Feature           /domain: TK
Protein struct  affects stabilizing interactions; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;C506Y; CY
Occurrence 1/1
Accession       K112
DBCrossRef      BTKbase:A0240
Original code   15/22
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; IT 0437 M94 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1649 
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506   
Feature           /change: C -> Y
Feature           /domain: TK
mRNA level      normal
Protein struct  affects stabilizing interactions; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;C506Y; CY
Occurrence 1/1
Accession       K113
DBCrossRef      BTKbase:A0241
Original code   36
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; CH 0046 M71 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1649
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506  
Feature           /change: C -> Y
Feature           /domain: TK
mRNA level      normal
Protein struct  affects stabilizing interactions; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;C506Y; CY
Occurrence 1/1
Accession       K114
DBCrossRef      BTKbase:A0378
Description     missense mutation in exon 15 leading to 
Description     amino acid change in TK domain
Date            15-May-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_41
DB CrossRef     SWISS-PROT; Q06187:506_506
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65374
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1649
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 506
Feature           /change: C -> Y
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;M509I; MI
Occurrence 1/1
Accession       K115
DBCrossRef      BTKbase:A0257
Original code   14.7; M509V(2)
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            09-Jan-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96007207
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_42
DB CrossRef     SWISS-PROT; Q06187:509_509
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65384
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1659
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509  
Feature           /change: M -> I
Feature           /domain: TK
Protein struct  affects stabilation of catalytic loop; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;M509I; MI
Occurrence 1/1
Accession       K116
DBCrossRef      BTKbase:A0467
Original code   14.71
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            21-Apr-1998 (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E..
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65384
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1659
Feature           /codon: atg -> ata; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509  
Feature           /change: M -> I
Feature           /domain: TK
Protein struct  affects stabilation of catalytic loop; ref [2]
Sex             XY
Family history  sproradic
Comment         -!-Symptoms: neutropenia
//
ID              BTK_HUMAN;    ;M509V; MV
Occurrence 1/1
Accession       K117
DBCrossRef      BTKbase:A0117
Original code   19/10
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65382
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1657 
Feature           /codon: atg -> gtg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 509   
Feature           /change: M -> V
Feature           /domain: TK
Protein struct  affects stabilation of catalytic loop; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Y511X; YX
Occurrence 1/1
Accession       K118
DBCrossRef      BTKbase:A0134
Original code   24
Description     nonsense mutation in the exon 15
Description     leading to stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65390
Feature           /change: c -> a
Feature           /genomic_region: exon; 15
Feature           /RE: +Bse1I, +BseNI, +BsrI, +BsrSI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1665 
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 511  
Feature           /change: Y -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        moderate XLA
Sex             XY
Age             1
Family history  inherited
IgA             < 0.1
IgG             < 0.3
IgM             < 0.1
B cells surf Ig 3
//
ID              BTK_HUMAN;    ;@Y511X; YX
Occurrence 3/3
Accession       K119
DBCrossRef      BTKbase:A0214
Original code   P1-1
Description     frameshift insertion in the exon 15 leading to
Description     stop codon in TK domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96431154
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 65388
Feature           /change: +gaat
Feature           /genomic_region:  exon; 15
Feature           /RE: +BpmI, +BsiLI, +BssKI, +Bst2UI, +BstNI, +BstOI, 
Feature           /RE: +EcoRII, +GsuI, +HinfI, +MboII, +MspR9I, +MvaI, 
Feature           /RE: +PleI, +PpsI, +SchI, +ScrFI, +Sse9I, +TasI, 
Feature           /RE: +Tsp509I, +TspEI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1663
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 511   
Feature           /change: Y -> X
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             2
Family history  inherited
Relative        BTK; A0215; brother
Relative        BTK; A0216; uncle
IgA             nd
IgG             nd
IgM             0.29
B cells surf Ig 1
//
ID              BTK_HUMAN;    ;L518R; LR
Occurrence 1/1
Accession       K122
DBCrossRef      BTKbase:A0539
Original code   JF
Description     missense mutation in the exon 15 leading to
Description     amino acid change in PH domain
Date            26-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs, Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320, e-mail allgau@u.washington.edu, 
RefLoc          fax: 206 543 3184
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65410
Feature           /change: t -> g
Feature           /genomic_region: exon;15
Feature           /RE: +MaeIII, +Tsp45I, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1685
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 518
Feature           /change: L -> R
Feature           /domain: TK
Symptoms        classical XLA
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K123
DBCrossRef      BTKbase:A0072
Original code   326
Description     nonsense mutation in the exon 15 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     OMIM; 300300.0036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
Comment         -!-Family history: 3 patients
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 2/2
Accession       K124
DBCrossRef      BTKbase:A0056
Description     nonsense mutation in the exon 15 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0036
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        moderate XLA
Sex             XY
Family history  inherited
Relative        BTK; A0057
B cells surf Ig low
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K126
DBCrossRef      BTKbase:A0091
Original code   17
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520 
Feature           /change: R -> X
Feature           /domain: TK
mRNA level      absent
Protein struct  premature stop
Symptoms        mild XLA
Sex             XY
Family history  de novo
B cells surf Ig <1
Comment         -!-Symptoms: neutropenia; ref [2]
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K127
DBCrossRef      BTKbase:A0217
Original code   P3
Description     nonsense mutation in the exon 15 leading to
Description     stop codon in TK domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96431154
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520  
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             1.75
Family history  inherited
IgA             < 0.05
IgG             < 0.32
IgM             < 0.06
B cells surf Ig 1
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K128
DBCrossRef      BTKbase:A0242
Original code   35
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; CH 0533 M74 G1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K129
DBCrossRef      BTKbase:A0337
Original code   SJ
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             7
Family history  inherited
IgA             0.10
IgG             2.30
IgM             0.20
CD19            1
Comment         -!-Symptoms: airway infections, bronciectasis, 
Comment            encephalopathy 
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K130
DBCrossRef      BTKbase:A0361
Original code   G8306
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            06-Sep-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (06-Sep-1996) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /note: generates Dde I site
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Sex             XY
Family history  inherited
Comment         -!-Family history: two affected half-brothers
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K131
DBCrossRef      BTKbase:A0362
Original code   G11469
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            06-Sep-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (06-Sep-1996) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /note: generates Dde I site
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Sex             XY
Age             5
Family history  inherited
B cells surf Ig nd
Comment         -!-Symptoms: recurrent infections, pneumococcal meningitis
Comment         -!-Family history: 4 affected males in 2 generations
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K132
DBCrossRef      BTKbase:A0383
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            15-May-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K133
DBCrossRef      BTKbase:A0414
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            20-Aug-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (20-Aug-1997) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /note: generates Dde I site
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;R520X; RX
Occurrence 1/1
Accession       K134
DBCrossRef      BTKbase:A0434
Original code   G16023
Description     nonsense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65415
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 15
Feature           /RE: +BstDEI, +DdeI, +TspRI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1690
Feature           /note: generates Dde I site
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; UK
Family history  inherited
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K135
DBCrossRef      BTKbase:A0073
Original code   72
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0037
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691 
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K136
DBCrossRef      BTKbase:A0058
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0037
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [1]
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K137
DBCrossRef      BTKbase:A0092
Original code   15
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691 
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520   
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K138
DBCrossRef      BTKbase:A0093
Original code   16
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691 
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
mRNA level      normal
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K139
DBCrossRef      BTKbase:A0155
Original code   FM; 12
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359987
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691 
Feature           /note: generates PflMI site
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520  
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
Comment         -!-Family history: 2 affected brothers
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K140
DBCrossRef      BTKbase:A0195
Original code   124
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             nd
IgE             nd
IgG             nd
IgM             nd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K141
DBCrossRef      BTKbase:A0196
Original code   50
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520  
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             nd
IgE             nd
IgG             nd
IgM             nd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K142
DBCrossRef      BTKbase:A0290
Original code   N19; TP
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            15-May-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-May-1996) to the BTKbase
RefLoc          Dr. Jerrold. H. Schwaber, Hahnemann University, Broad & 
RefLoc          Wine Philadelphia, PA 19102, USA, 
RefLoc          e-mail schwaberj@hal.hahnemann.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Age             0.75
Family history  inherited
IgG             20
IgM             < 50
B cells surf Ig <1
Comment         -!-Family history: affected twin brother and an uncle
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K143
DBCrossRef      BTKbase:A0435
Original code   G14247
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /note: generates PflMI site
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; Scotland
Family history  inherited
Comment         -!-General: no detectable B cells or Ig
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K144
DBCrossRef      BTKbase:A0436
Original code   G16115
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /note: generates PflMI site
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; UK
Family history  inherited
//
ID              BTK_HUMAN;    ;R520Q; RQ
Occurrence 1/1
Accession       K145
DBCrossRef      BTKbase:A0521
Original code   G16115
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            15-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     SWISSCHANGE; BTK_HUMAN_44
DB CrossRef     SWISS-PROT; Q06187:520_520
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65416
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon;15
Feature           /RE: +AccB7I, +PflMI, +Van91I, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1691
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 520
Feature           /change: R -> Q
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   - ; UK
//
ID              BTK_HUMAN;    ;D521G; DG
Occurrence 1/1
Accession       K146
DBCrossRef      BTKbase:A0398
Description     missense mutation in the exon 15 leading to 
Description     amino acid change in TK domain
Date            15-May-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65419
Feature           /change: a -> g
Feature           /genomic_region: exon; 15
Feature           /RE: +AatI, +BsaJI, +BseDI, +BshI, +BshI, -BshI, 
Feature           /RE: -BshI, +BssECI, +BsuRI, +BsuRI, -BsuRI, -BsuRI, 
Feature           /RE: +CviJI, +CviJI, -CviJI, -CviJI, +Eco147I, +HaeI, 
Feature           /RE: +HaeI, -HaeI, -HaeI, +HaeIII, +HaeIII, -HaeIII, 
Feature           /RE: -HaeIII, +PalI, +PalI, -PalI, -PalI, +Pme55I, 
Feature           /RE: +SecI, +SseBI, +StuI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1694
Feature           /codon: gac -> ggc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> G
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;D521H; DH
Occurrence 1/1
Accession       K147
DBCrossRef      BTKbase:A0315
Original code   P17
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            14-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_45
DB CrossRef     SWISS-PROT; Q06187:521_521
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65418
Feature           /change: g -> c
Feature           /genomic_region: exon; 15
Feature           /RE: +AdeI, +Bsp24I, +CjeI, +DraIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1693
Feature           /codon: gac -> cac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> H
Feature           /domain: TK
Protein level   normal; ref [2]
Kinase activity inactive
Sex             XY
Age             0.67
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             < 0.08
IgG             0.36
IgM             0.08
B cells surf Ig 0
//
ID              BTK_HUMAN;    ;D521N; DN
Occurrence 1/1
Accession       K148
DBCrossRef      BTKbase:A0199
Original code   KG
Description     missense mutation in the exon 15 leading to
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_46
DB CrossRef     SWISS-PROT; Q06187:521_521
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65418
Feature           /change: g -> a
Feature           /genomic_region: exon; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1693
Feature           /codon: gac -> aac; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 521
Feature           /change: D -> N
Feature           /domain: TK
Protein struct  disturbs catalysis; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#A523-114; GLRLYRPHLASEKVYTIMYSCWHE
Occurrence 1/1
Accession       K149
DBCrossRef      BTKbase:A0317
Original code   P9
Description     inframe deletion of exons 16-18 in TK domain 
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66781..68282
Feature           /change: -gcagctcgaa actgtttggt aaacgatcaa ggagttgtta
Feature           /change:  aagtatctga tttcggcctg tccaggtatg tcctggatga 
Feature           /change:  tgaatacaca agctcagtag gctccaaatt tccagtccgg  
Feature           /change:  tggtccccac cggaagtcct gatgtatagc aagttcagca  
Feature           /change:  gcaaatctga catttgggct tttggggttt tgatgtggga  
Feature           /change:  aatttactcc ctggggaaga tgccatatga gagatttact  
Feature           /change:  aacagtgaga ctgctgaaca cattgcccaa ggcctacgtc 
Feature           /change:  tctacaggcc tcatctggct tcagagaagg tatataccat 
Feature           /change:  catgtacagt tgttggcatg ag
Feature           /genomic_region: exon; 16..18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe_deletion
Feature           /loc:EMBL: X58957; G312467; HSATK: 1699..2040
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 523..636
Feature           /change: -AARNCLVNDQ GVVKVSDFGL SRYVLDDEYT  
Feature           /change:  SSVGSKFPVR WSPPEVLMYS KFSSKSDIWA  
Feature           /change:  FGVLMWEIYS LGKMPYERFT NSETAEHIAQ 
Feature           /change:  GLRLYRPHLA SEKVYTIMYS CWHE
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             0.5
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             < 0.05
IgM             < 0.05
B cells surf Ig 0
Comment         -!-Symptoms: agranulocytosis
//
ID              BTK_HUMAN;    ;A523E; AE
Occurrence 1/1
Accession       K150
DBCrossRef      BTKbase:A0522
Original code   G9251
Description     point mutation in the exon 16 causing amino acid
Description     change in domain TK
Date            28-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66782
Feature           /change: c -> a
Feature           /genomic_region: exon;16
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1700
Feature           /codon: gca -> gaa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 523
Feature           /change: A -> E
Feature           /domain: TK
Ethnic origin   - ; United Kingdom
//
ID              BTK_HUMAN;    ;R525X; RX
Occurrence 1/1
Accession       K151
DBCrossRef      BTKbase:A0118
Original code   32/21
Description     nonsense mutation in the exon 16 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66787
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1705 
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525  
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R525X; RX
Occurrence 1/1
Accession       K152
DBCrossRef      BTKbase:A0338
Original code   FP
Description     nonsense mutation in the exon 16 leading to 
Description     stop codon in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66787
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1705 
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525  
Feature           /change: R -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             4
IgA             0.01
IgG             2.02
IgM             0.20
CD19            1
Comment         -!-Symptoms: airway infections, H. influenzaearthritis 
//
ID              BTK_HUMAN;    ;R525X; RX
Occurrence 1/1
Accession       K153
DBCrossRef      BTKbase:A0402
Original code   G
Description     nonsense mutation in the exon 16 leading to 
Description     stop codon in TK domain
Date            02-Jan-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith, Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden, e-mail edvard.smith@cbt.ki.se
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66787
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1705 
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525  
Feature           /change: R -> X
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;R525X; RX
Occurrence 1/1
Accession       K154
DBCrossRef      BTKbase:A0523
Original code   G13840
Description     nonsense mutation in the exon 16 leading to 
Description     stop codon in TK domain
Date            15-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66787
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon;16
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1705
Feature           /codon: cga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> X
Feature           /domain: TK
Protein level   absent
Symptoms        classical XLA
Sex             XY
Age             3
Family history  inherited
Ethnic origin   - ; Falklands
Comment         -!-Symptoms: persistent chest infections, juvenile 
Comment            rheumatoid arthritis
Comment         -!-General: no visible gamma globulin on 
Comment            electrophoresis
//
ID              BTK_HUMAN;    ;R525G; RG
Occurrence 1/1
Accession       K155
DBCrossRef      BTKbase:A0500
Original code   1750
Description     point in the exon 16 causing amino acid change 
Description     in domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66787
Feature           /change: c -> g
Feature           /CpG; 1
Feature           /genomic_region: exon;16
Feature           /RE: +MspA1I, +NspBII, +PvuII, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1705
Feature           /codon: cga -> gga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> G
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R525P; RP
Occurrence 1/1
Accession       K156
DBCrossRef      BTKbase:A0119
Original code   15/20
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene 
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_47
DB CrossRef     SWISS-PROT; Q06187:525_525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66788
Feature           /change: g -> c
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1706
Feature           /codon: cga -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525   
Feature           /change: R -> P
Feature           /domain: TK
Protein struct  distortion of catalytic site; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R525Q; RQ
Occurrence 2/2
Accession       K157
DBCrossRef      BTKbase:A0001
Original code   A
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 93140868
RefAuthors      Vetrie, D., Vorechovsky, I., Sideras, P. Holland, J.,
RefAuthors      Davies, A., Flinter, F., Hammarstrom, L. Kinnon, C.,
RefAuthors      Levinsky, R., Robrow, M., Smith, C.I.E, Bentley, D.R.
RefTitle        The gene involved in X-linked agammaglobulinemia is
RefTitle        a member of the src family of protein-tyrosine kinases
RefLoc          Nature 361:226-233(1993)
RefNumber       [2]
RefCrossRef     MEDLINE; 94110610
RefAuthors      Smith, C. I. E., Baskin, B., Humire-Greiff, P., Zhou
RefAuthors      J. N., Olsson, P. G., Maniar, H. S., Kjellen, P., 
RefAuthors      Lambris, J. d., Christensson, B., Hammarstrom, L., Bentley,
RefAuthors      D., Vetrie, D., Islam, K. B., Vorechovsky, I., Sideras, P.
RefTitle        Expression of Bruton's agammaglobulinemia  tyrosine kinase
RefTitle        gene, BTK, is selectively down-regulated in the T-
RefTitle        lymphocytes and plasma cells
RefLoc          J. Immunol. 152:557-565(1994)
RefNumber       [3]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; SE 0542 M78 G1
DB CrossRef     OMIM; 300300.0001
DB CrossRef     SWISSCHANGE; BTK_HUMAN_48
DB CrossRef     SWISS-PROT; Q06187:525_525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66788
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1706
Feature           /note: destroys TaqI site
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> Q
Feature           /domain: TK
mRNA level      normal
Protein level   normal
Kinase activity inactive
Protein struct  distortion of catalytic site; ref [3]
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; Sweden
Family history  inherited
Relative        BTK; A0002; maternal
CD19            0.2
CD20            0.5
//
ID              BTK_HUMAN;    ;R525Q; RQ
Occurrence 3/3
Accession       K159
DBCrossRef      BTKbase:A0034
Original code   P08
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94377492
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations
RefTitle        and cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0001
DB CrossRef     SWISSCHANGE; BTK_HUMAN_48
DB CrossRef     SWISS-PROT; Q06187:525_525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66788
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1706
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  distortion of catalytic site; ref [2]
Symptoms        moderate XLA
Sex             XY
Age             8
Family history  inherited
Relative        BTK; A0035; cousin
Relative        BTK; A0036; cousin
IgA             0.06
IgG             1.00
IgM             5.0
CD20            <1
Comment         -!-Family history: 3 affected cousins
Comment         -!-Symptoms: otitis media, URI, pulmonary
//
ID              BTK_HUMAN;    ;R525Q; RQ
Occurrence 4/4
Accession       K162
DBCrossRef      BTKbase:A0049
Original code   @V377X404(1a)
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_48
DB CrossRef     SWISS-PROT; Q06187:525_525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66788
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1706
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  distortion of catalytic site; ref [2]
Symptoms        moderate XLA
Sex             XY
Relative        BTK; A0050
Relative        BTK; A0051
Relative        BTK; A0052
//
ID              BTK_HUMAN;    ;R525Q; RQ
Occurrence 1/1
Accession       K166
DBCrossRef      BTKbase:A0384
Description     missense mutation in the exon 16 leading to 
Description     amino acid change in TK domain
Date            15-May-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_48
DB CrossRef     SWISS-PROT; Q06187:525_525
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66788
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1706
Feature           /codon: cga -> caa; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 525
Feature           /change: R -> Q
Feature           /domain: TK
Protein struct  distortion of catalytic site; ref [3]
Sex             XY
//
ID              BTK_HUMAN;    ;N526K; NK
Occurrence 1/1
Accession       K167
DBCrossRef      BTKbase:A0120
Original code   2/19
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_49
DB CrossRef     SWISS-PROT; Q06187:526_526
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66792
Feature           /change: c -> g
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1710
Feature           /codon: aac -> aag; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 526
Feature           /change: N -> K
Feature           /domain: TK
Protein struct  disturbs Mg and D521 binding; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;@S572X; SX
Occurrence 1/1
Accession       K168
DBCrossRef      BTKbase:A0525
Original code   G15917
Description     frameshift insertion in the exon 17 leading to 
Description     stop codon in TK domain
Date            16-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (16-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 67569
Feature           /change: +ta
Feature           /genomic_region: exon;17
Feature           /RE: +BbvI, +Bst71I, +Fnu4HI, +Fsp4HI, +Hpy188IX, +ItaI, 
Feature           /RE: +MseI, +MwoI, +Tru1I, +Tru9I, +TseI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1846
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 572
Feature           /change: S -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             0.92
Family history  inherited
Ethnic origin   - ; Spain
IgA             0.020
IgG             0.175
IgM             0.010
CD19            0
Comment         -!-Symptoms: Septicaemia
//
ID              BTK_HUMAN;    ;#C527X528; CWX
Occurrence 1/1
Accession       K169
DBCrossRef      BTKbase:A0037
Original code   P17
Description     frameshift deletion in the exon 16 leading to stop codon in
Description     TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94377492
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations and
RefTitle        cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66795..66798
Feature           /change: -tttg or -gttt
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1713..1716
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> WX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             1.4
Family history  inherited
IgA             < 2.5
IgG             nd
IgM             40
CD20            <1
Comment         -!-Symptoms: pneumonia, Pseudomonas, Staphylococcus aureus
//
ID              BTK_HUMAN;    ;#C527X528; CWX
Occurrence 1/1
Accession       K170
DBCrossRef      BTKbase:A0094
Original code   P18, A0258
Description     frameshift deletion in the exon 16 leading to stop codon in
Description     TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 96007207
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
DB CrossRef     OMIM; 300300.0039
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66795..66798
Feature           /change: -tttg or - gttt
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1713..1716
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> WX
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  de novo
//
ID              BTK_HUMAN;    ;#C527X528; CWX
Occurrence 1/1
Accession       K171
DBCrossRef      BTKbase:A0200
Original code   JC
Description     frameshift deletion in the exon 16 leading to stop codon in
Description     TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66795..66798
Feature           /change: -tttg or -gttt
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1713..1716
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 527
Feature           /change: C -> WX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#N530X555; NTIKELLKYKISACPGMSWMMNTQAQX
Occurrence 1/1
Accession       K172
DBCrossRef      BTKbase:A0074
Original code   30
Description     frameshift deletion in the exon 16 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
DB CrossRef     OMIM; 300300.0038
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66802
Feature           /change: -a
Feature           /genomic_region: exon; 16
Feature           /RE: +MaeIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1720
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 530..555 
Feature           /change: N -> TIKELLKYKI SACPGMSWMM NTQAQX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;#G533X555; GELLKYLISACPGMSWMMNTQAQ*
Occurrence 1/1
Accession       K173
DBCrossRef      BTKbase:A0501
Original code   1830
Description     deletion in the exon 16
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66811
Feature           /change: g -> 
Feature           /genomic_region: exon;16
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1729
Feature           /codon: gga -> -; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out-of-frame extension
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 533
Feature           /change: G -> ELLKYLISACPGMSWMMNTQAQ*
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  de novo
//
ID              BTK_HUMAN;    ;V535F; VF
Occurrence 1/1
Accession       K174
DBCrossRef      BTKbase:A0502
Original code   1850
Description     point in the exon 16 causing amino acid change 
Description     in domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66817
Feature           /change: g -> t
Feature           /genomic_region: exon;16
Feature           /RE: +AhaIII, +DraI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1735
Feature           /codon: gtt -> ttt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 535
Feature           /change: V -> F
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;L542P; LP
Occurrence 1/1
Accession       K175
DBCrossRef      BTKbase:A0095
Original code   19
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0040
DB CrossRef     SWISSCHANGE; BTK_HUMAN_50
DB CrossRef     SWISS-PROT; Q06187:542_542
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66839
Feature           /change: t -> c
Feature           /genomic_region: exon; 16
Feature           /RE: +AspS9I, +AsuI, +BscGI, +BsiZI, +Cfr13I, +Sau96I, 
Feature           /RE: +Sth132I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1757
Feature           /codon: ctg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 542  
Feature           /change: L -> P
Feature           /domain: TK
Protein struct  substrate binding; ref [2]
Sex             XY
Family history  inherited
B cells surf Ig <1
Comment         -!-Symptoms: growth hormone deficiency
//
ID              BTK_HUMAN;    ;R544K; RK
Occurrence 1/1
Accession       K176
DBCrossRef      BTKbase:A0218
Original code   P16
Description     missense mutation in the exon 16 leading to
Description     amino acid change in TK domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96431154
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_51
DB CrossRef     SWISS-PROT; Q06187:544_544
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66845
Feature           /change: g -> a
Feature           /genomic_region: exon; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1763
Feature           /codon: agg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544  
Feature           /change: R -> K
Feature           /domain: TK
Protein struct  affects phosphotyrosine binding; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             < 0.05
IgG             0.30
IgM             < 0.05
//
ID              BTK_HUMAN;    ;S554X; SX
Occurrence 1/1
Accession       K177
DBCrossRef      BTKbase:A0339
Original code   SA
Description     nonsense mutation in the exon 17 leading to 
Description     stop codon in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67516
Feature           /change: c -> g
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1793 
Feature           /codon: tca -> tga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 554  
Feature           /change: S -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             2.5
IgA             0.14
IgG             0.80
IgM             0.28
CD19            3
Comment         -!-Symptoms: airway infections, encephalopathy
//
ID              BTK_HUMAN;    ;K558X; KX
Occurrence 1/1
Accession       K178
DBCrossRef      BTKbase:A0346
Original code   44-373
Description     nonsense mutation in the exon 17 leading to 
Description     stop codon in TK domain
Date            03-Sep-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (03-Sep-1996) to the BTKbase.
RefLoc          Dr. Sau-Ping Kwan, Dept of Immunology, Rush Medical School,
RefLoc          Chigago, IL 60612, USA.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67527
Feature           /change: a -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1804 
Feature           /codon: aaa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 558  
Feature           /change: K -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;F559S; FS
Occurrence 1/1
Accession       K179
DBCrossRef      BTKbase:A0340
Original code   BK
Description     missense mutation in the exon 17 leading to
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67531
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1808
Feature           /codon: ttt -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 559
Feature           /change: F -> S
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             0.75
IgA             0.02
IgG             2.29
IgM             0.12
CD19            0
Comment         -!-Family history: one affected brother
//
ID              BTK_HUMAN;    ;#V561X569; VDGGPHRKSX
Occurrence 1/1
Accession       K180
DBCrossRef      BTKbase:A0205
Description     frameshift deletion and an insertion in the exon 17 leading
Description     to stop codon in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96177680
RefAuthors      Vorechovsky, I., Luo, L., Genevieve, B., Hammarstrom, L., 
RefAuthors      Webster, A. D. B., Smith, C. I. E.
RefTitle        Improved oligonucleotide primer set for molecular 
RefTitle        diagnosis of X-linked agammaglobulinemia: predominance of
RefTitle        amino acid substitutions in the catalytic domain of 
RefTitle        Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 4:2403-2405(1995)
Feature         dna; 1
Feature           /rnalink; 3
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67537..67538
Feature           /change: -tc
Feature           /genomic_region: exon; 17
Feature         dna; 2
Feature           /rnalink; 3
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 67537
Feature           /change: +a 
Feature           /genomic_region: exon;17
Feature           /RE: +AspS9I, +AsuI, +AvaII, +BetI, +BetI, +BetI, 
Feature           /RE: +BetI, +Bme18I, +BsaWI, +BsaWI, +BsaWI, +BsaWI, 
Feature           /RE: +BscBI, +BscFI, +BsiSI, +BsiSI, +BsiSI, +BsiSI, 
Feature           /RE: +BsiZI, +Bsp24I, +Bsp143I, +BspLI, +BstX2I, +BstYI, 
Feature           /RE: +Cfr13I, +CjeI, +CjeI, +CjePI, +DpnI, +DpnII, 
Feature           /RE: +Eco47I, +HapII, +HapII, +HapII, +HapII, +HgiEI, 
Feature           /RE: +HpaII, +HpaII, +HpaII, +HpaII, +Hpy178III, +Hpy178III, 
Feature           /RE: +Hpy178III, +Kzo9I, +MboI, +MflI, +MspI, +MspI, 
Feature           /RE: +MspI, +MspI, +MspA1I, +NdeII, +NgoGV, +NlaIV, 
Feature           /RE: +NspBII, +PspN4I, +Sau3AI, +Sau96I, +SinI, +XhoII, 
Feature           /RE: 
Feature         rna; 3
Feature           /dnalink; 1
Feature           /dnalink; 2
Feature           /aalink; 4
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1814..1815
Feature           /codon: gtc -> ga
Feature         aa; 4
Feature           /rnalink: 3
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 561
Feature           /change: V -> DGGPHRKSX
Feature           /domain: TK
mRNA level      reduced
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R562P; RP
Occurrence 1/1
Accession       K181
DBCrossRef      BTKbase:A0103
Description     missense mutation in the exon 17 leading to
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_52
DB CrossRef     SWISS-PROT; Q06187:562_562
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67540
Feature           /change: g -> c
Feature           /genomic_region: exon; 17
Feature           /RE: +BsaJI, +BscGI, +BseDI, +BssECI, +BstDSI, +DsaI, 
Feature           /RE: +SecI, +Sth132I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1817
Feature           /codon: cgg -> ccg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562  
Feature           /change: R -> P
Feature           /domain: TK
Protein struct  stabilization and orientation of W563; ref [1]
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R562W; RW
Occurrence 1/1
Accession       K182
DBCrossRef      BTKbase:A0075
Original code   288
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0042
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 
Feature           /change: R -> W
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  de novo
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;R562W; RW
Occurrence 1/1
Accession       K183
DBCrossRef      BTKbase:A0096
Original code   21
Description     missense mutation in the exon 17 leading to 
Description     aminoacid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0042
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 
Feature           /change: R -> W
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [2]
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R562W; RW
Occurrence 1/1
Accession       K184
DBCrossRef      BTKbase:A0121
Original code   7/15
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 
Feature           /change: R -> W
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R562W; RW
Occurrence 1/1
Accession       K185
DBCrossRef      BTKbase:A0341
Original code   BM
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_53
DB CrossRef     SWISS-PROT; Q06187:562_562
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67539
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1816
Feature           /codon: cgg -> tgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 562 
Feature           /change: R -> W
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [3]
Symptoms        classical XLA
Sex             XY
Age             8
Comment         -!-Symptoms: airway infections, pneumonias bronchiectasis
//
ID              BTK_HUMAN;    ;#R562X569; RCGPHRKSX
Occurrence 1/1
Accession       K186
DBCrossRef      BTKbase:A0243
Original code   52/53
Description     frameshift deletion and an insertion in the exon 17 leading
Description     to stop codon in the TK domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; NO 001 M63 G1
Feature         dna; 1
Feature           /rnalink; 3
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67539..67540
Feature           /change: -cg
Feature           /genomic_region: exon; 17
Feature         dna; 2
Feature           /rnalink; 3
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 67541
Feature           /change: +t 
Feature           /genomic_region: exon;17
Feature           /RE: +AspS9I, +AsuI, +AvaII, +BetI, +BetI, +BetI, 
Feature           /RE: +BetI, +BetI, +Bme18I, +BsaWI, +BsaWI, +BsaWI, 
Feature           /RE: +BsaWI, +BsaWI, +BscBI, +BsiSI, +BsiSI, +BsiSI, 
Feature           /RE: +BsiSI, +BsiSI, +BsiZI, +Bsp24I, +BspLI, +Cfr13I, 
Feature           /RE: +CjeI, +CjeI, +CjePI, +Eco47I, +HapII, +HapII, 
Feature           /RE: +HapII, +HapII, +HapII, +HgiEI, +HpaII, +HpaII, 
Feature           /RE: +HpaII, +HpaII, +HpaII, +Hpy178III, +MspI, +MspI, 
Feature           /RE: +MspI, +MspI, +MspI, +NgoGV, +NlaIV, +PspN4I, 
Feature           /RE: +Sau96I, +SinI, 
Feature         rna; 3
Feature           /dnalink; 1
Feature           /dnalink; 2
Feature           /aalink; 4
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1816..1818
Feature         aa; 4
Feature           /rnalink: 3
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 562
Feature           /change: R -> CGPHRKSX
Feature           /domain: TK
mRNA level      reduced
Protein struct  premature stop
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;W563L; WL
Occurrence 1/1
Accession       K187
DBCrossRef      BTKbase:A0503
Original code   2110
Description     point in the exon 17 causing amino acid change in 
Description     domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67543
Feature           /change: g -> t
Feature           /genomic_region: exon;17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1820
Feature           /codon: tgg -> ttg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 563
Feature           /change: W -> L
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#W563X569; WCPHRKS*
Occurrence 1/1
Accession       K188
DBCrossRef      BTKbase:A0504
Original code   2116
Description     deletion in the exon 17
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67543
Feature           /change: g -> 
Feature           /genomic_region: exon;17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1820
Feature           /codon: tgg -> -; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out-of-frame extension
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 563
Feature           /change: W -> CPHRKS*
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;W563X; WX
Occurrence 1/1
Accession       K189
DBCrossRef      BTKbase:A0408
Description     nonsense mutation in the exon 17 leading to 
Description     stop codon in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67543
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1820
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 563 
Feature           /change: W -> X
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;#P566X569; PPKSX
Occurrence 1/1
Accession       K190
DBCrossRef      BTKbase:A0533
Original code   BH
Description     frameshift deletion in the exon 17 leading to 
Description     stop codon in TK domain
Date            26-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs, Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320, e-mail allgau@u.washington.edu, 
RefLoc          fax: 206 543 3184
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67553
Feature           /change: -g 
Feature           /genomic_region: exon;17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1830
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 566
Feature           /change: P -> PKSX
Feature           /domain: TK
Symptoms        classical XLA
//
ID              BTK_HUMAN;    ;E567K; EK
Occurrence 1/1
Accession       K191
DBCrossRef      BTKbase:A0135
Original code   40
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_54
DB CrossRef     SWISS-PROT; Q06187:567_567
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67554
Feature           /change: g -> a
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1831
Feature           /codon: gaa -> aaa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 567  
Feature           /change: E -> K
Feature           /domain: TK
Protein struct  distroys stabilizing ion bond with R641; ref [2]
Symptoms        classical XLA
Sex             XY
Age             2
Family history  de novo
IgA             < 0.2
IgG             2.0
IgM             < 0.2
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;W581R; WR
Occurrence 1/1
Accession       K192
DBCrossRef      BTKbase:A0097
Original code   22
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
DB CrossRef     OMIM; 300300.0043
DB CrossRef     SWISSCHANGE; BTK_HUMAN_55
DB CrossRef     SWISS-PROT; Q06187:581_581
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67596
Feature           /change: t -> c
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1873
Feature           /codon: tgg -> cgg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 581 
Feature           /change: W -> R
Feature           /domain: TK
mRNA level      normal
Protein struct  destabilization of hydrophobic packing; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  de novo
B cells surf Ig <1
Comment         -!-Symptoms: neutropenia; ref [3]
//
ID              BTK_HUMAN;    ;A582V; AV
Occurrence 1/1
Accession       K193
DBCrossRef      BTKbase:A0104
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_56
DB CrossRef     SWISS-PROT; Q06187:582_582
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67600
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1877
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 
Feature           /change: A -> V
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [1]
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;A582V; AV
Occurrence 1/1
Accession       K194
DBCrossRef      BTKbase:A0122
Original code   18/13
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_56
DB CrossRef     SWISS-PROT; Q06187:582_582
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67600
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1877
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 
Feature           /change: A -> V
Feature           /domain: TK
Protein struct  destabilization, orientation of W563; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;A582V; AV
Occurrence 1/1
Accession       K195
DBCrossRef      BTKbase:A0259
Original code   22.1
Description     missense mutation in the exon 17 leading to 
Description     amino acid change in TK domain
Date            09-Jan-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96007207
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [3]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_56
DB CrossRef     SWISS-PROT; Q06187:582_582
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67600
Feature           /change: c -> t
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1877
Feature           /codon: gct -> gtt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 582 
Feature           /change: A -> V
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
Comment         -!-Symptoms: neutropenia; ref [3]
//
ID              BTK_HUMAN;    ;#A582X586; AVLGFX
Occurrence 1/1
Accession       K196
DBCrossRef      BTKbase:A0526
Original code   G15916
Description     frameshift deletion in the exon 17 leading to 
Description     stop codon in TK domain.
Date            16-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (16-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67600
Feature           /change: -c  
Feature           /genomic_region: exon;17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1877
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out-of-frame extension
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 582
Feature           /change: A -> VLGFX
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             1.5
Family history  inherited
Ethnic origin   - ; Spain
IgA             0.01
IgG             0.28
IgM             0.033
CD19            0
Comment         -!-Symptoms: Pneumonia
//
ID              BTK_HUMAN;    ;F583S; FS
Occurrence 1/1
Accession       K197
DBCrossRef      BTKbase:A0527
Original code   G7247
Description     point mutation in the exon 17 causing amino acid
Description     change in domain TK
Date            28-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67603
Feature           /change: t -> c
Feature           /genomic_region: exon;17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1880
Feature           /codon: ttt -> tct; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 583
Feature           /change: F -> S
Feature           /domain: TK
Ethnic origin   - ; United Kingdom
//
ID              BTK_HUMAN;    ;#V585X586; VFX
Occurrence 1/1
Accession       K198
DBCrossRef      BTKbase:A0453
Original code   cell line BT-8
Description     frameshift deletion in the exon 17 leading to 
Description     stop codon in TK domain
Date            22-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (22-Sep-1997) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 67605
Feature           /change: -g 
Feature           /genomic_region: exon; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:  EMBL: X58957; G312467; HSATK: 1882
Feature           /note: deletion of exon 17
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 585
Feature           /change: V -> FX
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
//
ID              BTK_HUMAN;    ;M587L; ML
Occurrence 1/1
Accession       K199
DBCrossRef      BTKbase:A0136
Original code   39
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_57
DB CrossRef     SWISS-PROT; Q06187:587_587
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68133
Feature           /change: a -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1891
Feature           /codon: atg -> ctg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 587  
Feature           /change: M -> L
Feature           /domain: TK
Protein struct  destabilization of hydrophobic packing; ref [2]
Symptoms        mild XLA
Sex             XY
Age             13
Family history  de novo
IgA             0.1
IgG             2.2
IgM             0.3
B cells surf Ig 2
//
ID              BTK_HUMAN;    ;W588X; WX
Occurrence 1/1
Accession       K200
DBCrossRef      BTKbase:A0505
Original code   2270
Description     point in the exon 18 leading to stop codon in domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68137
Feature           /change: g -> a
Feature           /genomic_region: exon;18
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1895
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 588
Feature           /change: W -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  de novo
//
ID              BTK_HUMAN;    ;W588X; WX
Occurrence 1/1
Accession       K201
DBCrossRef      BTKbase:A0506
Original code   2273
Description     point in the exon 18 leading to stop codon in domain TK
Date            28-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68137
Feature           /change: g -> a
Feature           /genomic_region: exon;18
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1895
Feature           /codon: tgg -> tag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 588
Feature           /change: W -> X
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  de novo
//
ID              BTK_HUMAN;    ;E589D; ED
Occurrence 1/1
Accession       K202
DBCrossRef      BTKbase:A0260
Original code   22.8
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            09-Jan-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96007207
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68141
Feature           /change: a -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1899
Feature           /codon: gaa -> gat; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 589  
Feature           /change: E -> D
Feature           /domain: TK
Protein struct  affects substrate binding; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;E589G; EG
Occurrence 3/3
Accession       K203
DBCrossRef      BTKbase:A0061
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0044
DB CrossRef     SWISSCHANGE; BTK_HUMAN_58
DB CrossRef     SWISS-PROT; Q06187:589_589
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68140
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1898
Feature           /codon: gaa -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 589  
Feature           /change: E -> G
Feature           /domain: TK
Protein struct  affects substrate binding; ref [1]
Symptoms        moderate XLA
Sex             XY
Family history  inherited
Relative        BTK; A0062
Relative        BTK; A0063
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Y591X; YX
Occurrence 1/1
Accession       K206
DBCrossRef      BTKbase:A0098
Original code   23
Description     nonsense mutation in the exon 18 leading to 
Description     stop condon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J.E., Rohrer, J., Conley, M.-E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
DB CrossRef     OMIM; 300300.0045
DB CrossRef     SWISSCHANGE; BTK_HUMAN_59
DB CrossRef     SWISS-PROT; Q06187:591_591
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68147
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +MseI, +Tru1I, +Tru9I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1905
Feature           /codon: tac -> taa; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 591  
Feature           /change: Y -> X
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  de novo
B cells surf Ig <1
Comment         -!-Symptoms: neutropenia; ref[2]
//
ID              BTK_HUMAN;    ;S592P; SP
Occurrence 1/1
Accession       K207
DBCrossRef      BTKbase:A0219
Original code   P12
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            26-Sep-1995 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96431154
RefAuthors      Kobayashi, S., Iwata, T., Saito, M., Iwasaki, R., 
RefAuthors      Matsumoto, H., Naritaka, S., Kono, Y., Hayashi, Y.
RefTitle        Mutations of the Btk gene in 12 unrelated families
RefTitle        with X-linked agammaglobulinemia in Japan
RefLoc          Hum. Genet. 97:424-430(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_60
DB CrossRef     SWISS-PROT; Q06187:592_592
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68148
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1906
Feature           /codon: tcc -> ccc; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 592
Feature           /change: S -> P
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             0.66
Family history  inherited
IgA             < 0.20
IgG             0.06
IgM             < 0.20
B cells surf Ig 10
//
ID              BTK_HUMAN;    ;G594E; GE
Occurrence 3/3
Accession       K208
DBCrossRef      BTKbase:A0105
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68155
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +BpmI, +GsuI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1913
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> E
Feature           /domain: TK
Protein struct  affects substrate binding; ref [1]
Symptoms        mild XLA
Sex             XY
Family history  inherited
Relative        BTK; A0106; brother
Relative        BTK; A0187; uncle
IgG             1.3
B cells surf Ig 1
Comment         -!-Symptoms: growth hormone deficiency
//
ID              BTK_HUMAN;    ;G594E; GE
Occurrence 1/1
Accession       K211
DBCrossRef      BTKbase:A0385
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68155
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +BpmI, +GsuI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1913
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> E
Feature           /domain: TK
Protein struct  affects substrate binding; ref [3]
Sex             XY
//
ID              BTK_HUMAN;    ;G594E; GE
Occurrence 1/1
Accession       K212
DBCrossRef      BTKbase:A0417
Original code   45-369
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            20-Aug-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (20-AUg-1997) to the BTKbase.
RefLoc          Dr. Sau-Ping Kwan, Dept of Immunology, Rush Medical School,
RefLoc          Chigago, IL 60612, USA.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68155
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +BpmI, +GsuI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1913
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> E
Feature           /domain: TK
Protein struct  affects substrate binding; ref [2]
Sex             XY
Family history  de novo
//
ID              BTK_HUMAN;    ;G594E; GE
Occurrence 1/1
Accession       K213
DBCrossRef      BTKbase:A0507
Original code   2320
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            28-Apr-1998 (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minigichi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk in patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am. J. Hum. Genet. 62:1034-1043(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_61
DB CrossRef     SWISS-PROT; Q06187:594_594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68155
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +BpmI, +GsuI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1913
Feature           /codon: ggg -> gag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> E
Feature           /domain: TK
Protein struct  affects substrate binding; ref [1]
Symptoms        mild XLA
Sex             XY
Family history  sporadic
//
ID              BTK_HUMAN;    ;G594R; GR
Occurrence 1/1
Accession       K214
DBCrossRef      BTKbase:A0123
Original code   20/17
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_62
DB CrossRef     SWISS-PROT; Q06187:594_594
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68154
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +AocI, +AxyI, +Bse21I, +BstDEI, +Bsu36I, +CvnI, 
Feature           /RE: +DdeI, +Eco81I, +SauI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1912
Feature           /codon: ggg -> agg; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 594
Feature           /change: G -> R
Feature           /domain: TK
Protein struct  affects substrate binding; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Y598C; YC
Occurrence 1/1
Accession       K215
DBCrossRef      BTKbase:A0244
Original code   44
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; GB 0577 M63 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_63
DB CrossRef     SWISS-PROT; Q06187:598_598
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68167
Feature           /change: a -> g
Feature           /genomic_region: exon; 18
Feature           /RE: +Hsp92II, +NlaIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1925
Feature           /codon: tat -> tgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 598
Feature           /change: Y -> C
Feature           /domain: TK
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R600X; RX
Occurrence 1/1
Accession       K216
DBCrossRef      BTKbase:A0201
Original code   CT
Description     nonsense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68172
Feature           /change: a -> t
Feature           /genomic_region: exon; 18
Feature           /RE: +MslI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1930
Feature           /codon: aga -> tga; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 600
Feature           /change: R -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;@E605+2; +DS
Occurrence 1/1
Accession       K217
DBCrossRef      BTKbase:A0342
Original code   SP
Description     inframe insertion in the exon 18 in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 68187
Feature           /change: +gacagt
Feature           /genomic_region:  exon; 18
Feature           /RE: +AatI, +BsaJI, +BseDI, +BshI, +BssECI, +BssT1I, 
Feature           /RE: +Bst4CI, +Bst4CI, +BsuRI, +CviJI, +Eco130I, +Eco147I, 
Feature           /RE: +EcoT14I, +ErhI, +HaeI, +HaeIII, +MaeIII, +PalI, 
Feature           /RE: +Pme55I, +SecI, +SseBI, +StuI, +StyI, +TaaI, 
Feature           /RE: +TaaI, +Tsp45I, +Tsp4CI, +Tsp4CI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: inframe_insertion
Feature           /loc:EMBL: X58957; G312467; HSATK: 1945
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 605
Feature           /change: +DS
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             4
IgA             < 0.01
IgG             1.05
IgM             0.10
B cells surf Ig 0
Comment         -!-Symptoms: airway infections, H. influenzae meningitis,
Comment            pneumonia
//
ID              BTK_HUMAN;    ;A607D; AD
Occurrence 3/3
Accession       K218
DBCrossRef      BTKbase:A0016
Original code   TF
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94214481
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia 
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0046
DB CrossRef     SWISSCHANGE; BTK_HUMAN_64
DB CrossRef     SWISS-PROT; Q06187:607_607
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68194
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1952
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 607
Feature           /change: A -> D
Feature           /domain: TK
Protein struct  domain-domain interactions; ref [2]
Symptoms        moderate XLA
Sex             XY
Family history  inherited
Relative        BTK; A0017; brother
Relative        BTK; A0018; brother
IgA             0.46
IgE             normal
IgG             8.09
IgG1            4.88
IgG2            < 0.03
IgG3            0.30
IgG4            0.12
IgM             0.25
B cells surf Ig 1
//
ID              BTK_HUMAN;    ;A607D; AD
Occurrence 2/2
Accession       K221
DBCrossRef      BTKbase:A0343
Original code   MB
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
RefNumber       [3]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_64
DB CrossRef     SWISS-PROT; Q06187:607_607
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68194
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1952
Feature           /codon: gct -> gat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 607
Feature           /change: A -> D
Feature           /domain: TK
Protein struct  domain-domain interactions; ref [3]
Symptoms        classical XLA
Sex             XY
Age             3
Relative        BTK; A0344; brother
IgA             0.02
IgG             1.62
IgM             0.09
CD19            3
Comment         -!-Symptoms: airway infections, H. influenzae meningitis,
Comment            bronchiectasis
//
ID              BTK_HUMAN;    ;Q612X; QX
Occurrence 1/1
Accession       K223
DBCrossRef      BTKbase:A0437
Original code   G11864
Description     nonsense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68208
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature           /RE: +AocI, +AxyI, +Bse21I, +BstDEI, +Bsu36I, +CvnI, 
Feature           /RE: +DdeI, +Eco81I, +SauI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1966
Feature           /note: destroys StyI site
Feature           /note: generates DdeI site
Feature           /codon: caa -> taa; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 612
Feature           /change: Q -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  inherited
//
ID              BTK_HUMAN;    ;G613D; GD
Occurrence 2/2
Accession       K224
DBCrossRef      BTKbase:A0064
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
DB CrossRef     OMIM; 300300.0047
DB CrossRef     SWISSCHANGE; BTK_HUMAN_65
DB CrossRef     SWISS-PROT; Q06187:613_613
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68212
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +PshAI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1970
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 613
Feature           /change: G -> D
Feature           /domain: TK
Protein struct  domain-domain interactions; ref [2]
Symptoms        mild XLA
Sex             XY
Family history  inherited
Relative        BTK; A0065; brother
//
ID              BTK_HUMAN;    ;G613D; GD
Occurrence 2/2
Accession       K226
DBCrossRef      BTKbase:A0530
Original code   G15915a
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            15-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
DB CrossRef     SWISSCHANGE; BTK_HUMAN_65
DB CrossRef     SWISS-PROT; Q06187:613_613
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68212
Feature           /change: g -> a
Feature           /genomic_region: exon;18
Feature           /RE: +PshAI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1970
Feature           /codon: ggc -> gac; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 613
Feature           /change: G -> D
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             0.3
Family history  inherited
Ethnic origin   - ; Spain
IgA             nd
IgG             0.417
IgM             0.213
CD19            0
Comment         -!-Symptoms: pneumonia
//
ID              BTK_HUMAN;    ;P619A; PA
Occurrence 1/1
Accession       K228
DBCrossRef      BTKbase:A0438
Original code   G7996
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68229
Feature           /change: c -> g
Feature           /genomic_region: exon; 18
Feature           /RE: +BanII, +CviJI, +Eco24I, +EcoT38I, +FriOI, +HgiJII, 
Feature           /RE: +MwoI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1987
Feature           /note: destroys Hae III site
Feature           /codon: cct -> gct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> A
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; Spain
Family history  inherited
//
ID              BTK_HUMAN;    ;P619S; PS
Occurrence 1/1
Accession       K229
DBCrossRef      BTKbase:A0245
Original code   39
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; SE 0756 M92 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_66
DB CrossRef     SWISS-PROT; Q06187:619_619
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68229
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature           /RE: +Alw26I, +Alw26I, +BsaI, +BsmAI, +BsmAI, +Eco31I, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1987
Feature           /codon: cct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> S
Feature           /domain: TK
mRNA level      normal
Protein struct  affects turn formation; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;P619S; PS
Occurrence 1/1
Accession       K230
DBCrossRef      BTKbase:A0246
Original code   59
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     ESID; GB 1234 M70 G1
DB CrossRef     SWISSCHANGE; BTK_HUMAN_66
DB CrossRef     SWISS-PROT; Q06187:619_619
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68229
Feature           /change: c -> t
Feature           /genomic_region: exon; 18
Feature           /RE: +Alw26I, +Alw26I, +BsaI, +BsmAI, +BsmAI, +Eco31I, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1987
Feature           /codon: cct -> tct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619
Feature           /change: P -> S
Feature           /domain: TK
Protein struct  affects turn formation; ref [2]
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;P619T; PT
Occurrence 1/1
Accession       K231
DBCrossRef      BTKbase:A0379
Description     missense mutation in exon 18 leading to 
Description     amino acid change in TK domain
Date            15-May-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68229
Feature           /change: c -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +HinfI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1987 
Feature           /codon: cct -> act; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 619  
Feature           /change: P -> T
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;#L621X648; LLLQRRYIPSCTVVGMRKQMSVPLSKFFX
Occurrence 1/1
Accession       K232
DBCrossRef      BTKbase:A0536
Original code   MW
Description     frameshift deletion in the exon 18 leading to stop codon in
Description     TK domain
Date            26-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (26-Oct-1998) to BTKbase.
RefLoc          Prof. Hans D. Ochs, Department of Pediatrics, Box 
RefLoc          356320, University of Washington, School of Medicine 
RefLoc          Seattle, WA 98195-6320, e-mail allgau@u.washington.edu, 
RefLoc          fax: 206 543 3184
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68237
Feature           /change: -g
Feature           /genomic_region: exon;18
Feature           /RE: +MwoI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1995
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:  out of frame translation; premature termination
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 621
Feature           /change: L -> LLQRRYIPSCTVVGMRKQMSVPLSKFFX
Feature           /domain: TK
Symptoms        classical XLA
//
ID              BTK_HUMAN;    ;A622P; AP
Occurrence 1/1
Accession       K233
DBCrossRef      BTKbase:A0469
Original code   23.70
Description     point in the exon 18 causingamino acid change in 
Description     the kinase domain
Date            25-Apr-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E.
RefTitle        Neutropenia in X-linked agammaglobulinemia 
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68238
Feature           /change: g -> c
Feature           /genomic_region: exon;18
Feature           /RE: +MwoI, 
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 1996
Feature           /codon: gct -> cct; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: substitution
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 622
Feature           /change: A -> P
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  de novo
Comment         -!-Symptoms: neutropenia
//
ID              BTK_HUMAN;    ;V626G; VG
Occurrence 1/1
Accession       K234
DBCrossRef      BTKbase:A0345
Original code   EM
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            27-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68251
Feature           /change: t -> g
Feature           /genomic_region: exon; 18
Feature           /RE: +HaeIV, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2009
Feature           /codon: gta -> gga; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 626
Feature           /change: V -> G
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             3
IgA             < 0.07
IgG             1.04
IgM             0.34
CD19            1
Comment         -!-Symptoms: recurrent airway infections
//
ID              BTK_HUMAN;    ;@T628X649; KQMSVPLSKFFX
Occurrence 1/1
Accession       K235
DBCrossRef      BTKbase:A0157
Original code   AJ; 14
Description     frameshift insertion in the exon 18 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359987
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 68255
Feature           /change: +ca
Feature           /genomic_region:  exon; 18
Feature           /RE: +AauI, +AccI, +AfaI, +AlwNI, +BccI, +Bsp1407I, 
Feature           /RE: +BsrGI, +BssNAI, +Bst1107I, +Bst4CI, +BstZ17I, +Cac8I, 
Feature           /RE: +CaiI, +Csp6I, +FblI, +Hsp92II, +Hsp92II, +NlaIII, 
Feature           /RE: +NlaIII, +RsaI, +SnaI, +SspBI, +TaaI, +TatI, 
Feature           /RE: +Tsp4CI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 2013
Feature           /note: generates MsI1 site
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 628..649
Feature           /change: YTIMYSCWHE KADERPTFKI LLS -> IPSCTVVGMR
Feature           /change: KQMSVPLSKF FX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  de novo
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;@I629X653; unknown
Occurrence 1/1
Accession       K236
DBCrossRef      BTKbase:A0066
Original code   14
Description     frameshift insertion in the exon 18 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152522
RefAuthors      Zhu, Q., Zhang, M., Winkelstein, J., Chen., S., Ochs, H.D.
RefTitle        Unique mutations of Bruton's tyrosine kinase in fourteen
RefTitle        unrelated X-linked agammaglobulinemia families
RefLoc          Hum. Molec. Genet. 3:1899-1900(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: unknown
Feature           /changeLength: +26 bp
Feature           /genomic_region: unknown
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 2019
Feature           /codon: unknown
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature stop
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 629
Feature           /change: unknown
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;#629-4+1; TIMYSCTS
Occurrence 1/1
Accession       K237
DBCrossRef      BTKbase:A0514
Original code   2390
Description     In-frame deletion and insertion in the exon 18
Date            14-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 98213565
RefAuthors      Conley, M. E., Mathias, D., Treadaway, J., Minegishi,
RefAuthors      Y., Rohrer, J.
RefTitle        Mutations in Btk patients with presumed X-linked
RefTitle        agammaglobulinemia
RefLoc          Am J. Hum. Genet. 62:1034-1043(1998)
Feature         dna; 1
Feature           /rnalink; 3
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68258..68274
Feature           /change: -catcatgtacagttgt
Feature           /genomic_region: exon; 18
Feature         dna; 2
Feature           /rnalink; 3
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 68258
Feature           /change: +ttcg 
Feature           /genomic_region: exon;18
Feature           /RE: +AauI, +AfaI, +AlwNI, +Bsp1407I, +BsrGI, +Bst4CI, 
Feature           /RE: +Cac8I, +CaiI, +Csp6I, +Hsp92II, +Hsp92II, +NlaIII, 
Feature           /RE: +NlaIII, +RsaI, +SfaNI, +SspBI, +TaaI, +TatI, 
Feature           /RE: +Tsp4CI, 
Feature         rna; 3
Feature           /dnalink; 1
Feature           /dnalink; 2
Feature           /aalink; 4
Feature           /name: inframe deletion
Feature           /loc: EMBL: X58957; G312467; HSATK: 2016..2031
Feature           /codon: acc -> a; 3
Feature         aa; 4
Feature           /rnalink: 3
Feature           /name: inframe deletion
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 628..633
Feature           /change: TIMYSC -> TS
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;M630K; MK
Occurrence 1/1
Accession       K238
DBCrossRef      BTKbase:A0076
Original code   236
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152493
RefAuthors      Hagemann, T. L., Chen, Y., Rosen, F. S., Kwan, S.
RefTitle        Genomic organization of the Btk gene and exon scanning for
RefTitle        mutations in the patients with X-linked 
RefTitle        agammaglobulinemia
RefLoc          Hum. Molec. Genet. 3:1743-1749(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0048
DB CrossRef     SWISSCHANGE; BTK_HUMAN_68
DB CrossRef     SWISS-PROT; Q06187:630_630
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68263
Feature           /change: t -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2021
Feature           /codon: atg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> K
Feature           /domain: TK
Protein struct  destabilization of hydrophobic core; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
IgA             hd
IgE             hd
IgG             < 10%
IgM             hd
B cells surf Ig nd
//
ID              BTK_HUMAN;    ;M630K; MK
Occurrence 1/1
Accession       K239
DBCrossRef      BTKbase:A0099
Original code   24
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0048
DB CrossRef     SWISSCHANGE; BTK_HUMAN_68
DB CrossRef     SWISS-PROT; Q06187:630_630
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68263
Feature           /change: t -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2021
Feature           /codon: atg -> aag; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> K
Feature           /domain: TK
Protein struct  destabilization of hydrophobic core; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;M630T; MT
Occurrence 1/1
Accession       K240
DBCrossRef      BTKbase:A0439
Original code   G8672
Description     missense mutation in the exon 18 leading to 
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68263
Feature           /change: t -> c
Feature           /genomic_region: exon; 18
Feature           /RE: +BsaAI, +BstBAI, +MaeII, +TaiI, +TscI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2021
Feature           /note: destroys Nla III site
Feature           /note: generates Tai I site
Feature           /note: generates Mae II site
Feature           /codon: atg -> acg; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 630
Feature           /change: M -> T
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; England
Family history  de novo
CD19            1
Comment         -!-Family history: mother does not carry mutation
//
ID              BTK_HUMAN;    ;#Y631X; YX
Occurrence 1/1
Accession       K241
DBCrossRef      BTKbase:A0440
Original code   G13557
Description     frameshift deletion in the exon 18 leading to 
Description     stop codon in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68266..68267
Feature           /change: -ac
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 2024..2025
Feature           /note: destroys RsaI site 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 631
Feature           /change: Y -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; England
Family history  de novo
CD19            0
Comment         -!-Family history: mother does not carry mutation
//
ID              BTK_HUMAN;    ;#Y631X648; YTVVGMRKRMSVPLSKFFX
Occurrence 1/1
Accession       K242
DBCrossRef      BTKbase:A0137
Original code   57; TAX
Description     frameshift deletion in the exon 18 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68265
Feature           /change: -t
Feature           /genomic_region: exon; 18
Feature           /RE: +Bsp24I, +BspHI, +CjePI, +Hpy178III, +PagI, +RcaI, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 2023
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 631
Feature           /change: Y -> TVVGMRKRMS VPLSKFFX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  de novo
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;#S632X648; SVVGMRKQMSVPLSKFFX
Occurrence 1/1
Accession       K243
DBCrossRef      BTKbase:A0138
Original code   17
Description     frameshift deletion in the exon 18 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68268
Feature           /change: -a
Feature           /genomic_region: exon; 18
Feature           /RE: +MaeII, +TaiI, +TscI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 2026
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 632
Feature           /change: S -> VVGMRKQMSV PLSKFFX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             1
Family history  inherited
IgA             < 0.2
IgG             < 1
IgM             < 0.2
B cells surf Ig 2
//
ID              BTK_HUMAN;    ;C633Y; CY
Occurrence 1/1
Accession       K244
DBCrossRef      BTKbase:A0320
Original code   P16
Description     missense mutation in the exon 18 leading to
Description     amino acid change in TK domain
Date            14-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_69
DB CrossRef     SWISS-PROT; Q06187:633_633
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68272
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature           /RE: +Bse1I, +BseNI, +BsrI, +BsrSI, +MaeIII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2030
Feature           /codon: tgt -> tat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 633
Feature           /change: C -> Y
Feature           /domain: TK
Kinase activity inactive
Sex             XY
Age             5
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             0.10
IgG             1.30
IgM             0.24
B cells surf Ig <0.1
//
ID              BTK_HUMAN;    ;W634X; WX
Occurrence 1/1
Accession       K245
DBCrossRef      BTKbase:A0321
Original code   P27
Description     nonsense mutation in the exon 18 leading to
Description     stop codon in TK domain
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68276
Feature           /change: g -> a
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2034
Feature           /codon: tgg -> tga; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 634
Feature           /change: W -> X
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             2.42
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             0.10
IgG             0.40
IgM             0.15
B cells surf Ig 0.3
Comment         -!-Symptoms: agranulocytosis
//
ID              BTK_HUMAN;    ;E636X; EX
Occurrence 3/3
Accession       K246
DBCrossRef      BTKbase:A0019
Original code   AP
Description     nonsense mutation in the exon 18 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94214481
RefAuthors      Bradley, L.A.D., Sweatman, A.K., Lovering, R.C., Jones, 
RefAuthors      A.M., Morgan, G., Levinsky, R.J., Kinnon, C.
RefTitle        Mutation detection in the X-linked agammaglobulinemia 
RefTitle        gene, BTK, using single strand conformation polymorphism 
RefTitle        analysis
RefLoc          Hum. Molec. Genet. 3:79-83(1994)
DB CrossRef     OMIM; 300300.0049
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68280
Feature           /change: g -> t
Feature           /genomic_region: exon; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: nonsense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2038
Feature           /note: destroys NlaIII site
Feature           /codon: gag -> tag; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 636
Feature           /change: E -> X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Family history  inherited
Relative        BTK; A0020; brother
Relative        BTK; A0021; brother
IgA             1.0
IgG             1.2
IgM             5.2
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;@K637X638; KAPX
Occurrence 1/1
Accession       K249
DBCrossRef      BTKbase:A0027
Original code   G03
Description     frameshift insertion in the exon 19 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94214435
RefAuthors      de Weers, M., Mensink, R. G. J., Kraakman, M. E. M., 
RefAuthors      Schuurman, R. K. B., Hendriks, R. W.
RefTitle        Mutation analysis of the Bruton's tyrosine kinase gene in 
RefTitle        X-linked agammaglobulinemia: identification of a mutation 
RefTitle        which affects the same codon as is altered in 
RefTitle        immunodeficient xid mice
RefLoc          Hum. Molec. Genet. 3:161-166(1994)
DB CrossRef     OMIM; 300300.0050
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 71521
Feature           /change: + ttttag
Feature           /genomic_region:  exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:  EMBL: X58957; G312467; HSATK: 2041
Feature           /note: possibly defective splicing exon 18 to 19
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 637..638
Feature           /change: KA -> PX
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             3
Family history  inherited
IgA             0.03
IgG             0.06
IgM             0.06
//
ID              BTK_HUMAN;    ;R641C; RC
Occurrence 1/1
Accession       K250
DBCrossRef      BTKbase:A0158
Original code   15
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359987
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R. 
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an 
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_71
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71533
Feature           /change: c -> t
Feature           /CpG; 1
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2053
Feature           /codon: cgt -> tgt; 1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> C
Feature           /domain: TK
Protein struct  destroys stabilizing ion bond with E567; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K251
DBCrossRef      BTKbase:A0139
Original code   23
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Protein struct  destroys stabilizing ion bond with E567; ref [2]
Symptoms        mild XLA
Sex             XY
Age             <1
Family history  inherited
IgA             < 0.3
IgG             1.2
IgM             0.27
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K252
DBCrossRef      BTKbase:A0140
Original code   35
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Protein struct  destroys stabilizing ion bond with E567; ref [2]
Symptoms        classical XLA
Sex             XY
Age             1
Family history  de novo
IgA             < 0.1
IgG             2.0
IgM             0.2
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K253
DBCrossRef      BTKbase:A0141
Original code   20
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Protein struct  destroys stabilizing ion bond with E567; ref [2]
Symptoms        classical XLA
Sex             XY
Age             3
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K254
DBCrossRef      BTKbase:A0403
Original code   I
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            02-Jan-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith, Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden, e-mail edvard.smith@cbt.ki.se
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K255
DBCrossRef      BTKbase:A0454
Original code   PS
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            22-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (22-Sep-1997) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;R641H; RH
Occurrence 1/1
Accession       K256
DBCrossRef      BTKbase:A0455
Original code   AH
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            22-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (22-Sep-1997) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
DB CrossRef     SWISSCHANGE; BTK_HUMAN_72
DB CrossRef     SWISS-PROT; Q06187:641_641
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71534
Feature           /change: g -> a
Feature           /CpG; 2
Feature           /genomic_region: exon; 19
Feature           /RE: +BsaBI, +Bse8I, +Bsh1365I, +BsiBI, +BsrBRI, +MamI, 
Feature           /RE: +SfaNI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2054
Feature           /codon: cgt -> cat; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 641
Feature           /change: R -> H
Feature           /domain: TK
Sex             XY
//
ID              BTK_HUMAN;    ;#P642X654; PTFQNSSEQYSRCHG*
Occurrence 1/1
Accession       K257
DBCrossRef      BTKbase:A0513
Original code   IV
Description     deletion in the exon 19
Date            13-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Dr. Igor Resnick, Department of Clinical Immunology,
RefLoc          Research Institute for Paediatric Hematology, 
RefLoc          Central Republican Paediatric Hospital, 
RefLoc          Leninsky Pr. 117, Moscow 117513, Russia.
RefLoc          Submitted (10-Oct-1998) to BTKbase.
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 71537
Feature           /change: ccactttc -> 
Feature           /genomic_region: exon;19
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 2057..2064
Feature           /codon: ccc -> -; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out-of-frame extension
Feature           /loc: SWISS-PROT: Q06187; BTK_HUMAN: 642..644
Feature           /change: PTF -> QNSSEQYSRCHG*
Feature           /domain: TK
Sex             XY
IgA             < 6.67
IgG             116
IgM             20.8
CD19            1
Comment         -!-Symptoms: necrotic mucosis, recurrent bronchitis,
Comment            purulent otitis, purulent rhinitis, purulent sinusitis
//
ID              BTK_HUMAN;    ;F644L; FL
Occurrence 1/1
Accession       K258
DBCrossRef      BTKbase:A0441
Original code   G12738
Description     missense mutation in the exon 19 leading to
Description     amino acid change in TK domain
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71544
Feature           /change: c -> a
Feature           /genomic_region: exon; 19
Feature           /RE: +AhaIII, +DraI, +MseI, +Tru1I, +Tru9I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2064
Feature           /codon: ttc -> tta; 3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 644
Feature           /change: F -> L
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Ethnic origin   Caucasoid; Northern Ireland
Family history  de novo
CD19            0
Comment         -!-Family history: mother does not carry mutation
//
ID              BTK_HUMAN;    ;F644S; FS
Occurrence 1/1
Accession       K259
DBCrossRef      BTKbase:A0322
Original code   P14
Description     missense mutation in the exon 19 leading to
Description     amino acid change in TK domain
Date            14-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_73
DB CrossRef     SWISS-PROT; Q06187:644_644
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71543
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature           /RE: +CjePI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2063
Feature           /codon: ttc -> tcc; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 644
Feature           /change: F -> S
Feature           /domain: TK
Protein level   much reduced; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             0.25
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             0.29
IgM             0.17
B cells surf Ig 0.6
Comment         -!-Family history: two affected brothers
//
ID              BTK_HUMAN;    ;L647R; LR
Occurrence 3/3
Accession       K260
DBCrossRef      BTKbase:A0202
Original code   L647P(1); L647R(1)
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            25-Sep-1995 (Rel. 2, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (08-Sept-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     SWISSCHANGE; BTK_HUMAN_74
DB CrossRef     SWISS-PROT; Q06187:647_647
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71552
Feature           /change: t -> g
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense
Feature           /loc: EMBL: X58957; G312467; HSATK: 2072
Feature           /codon: ctt -> cgt; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 647
Feature           /change: L -> R
Feature           /domain: TK
Protein struct  affects conformation of the C-terminus; ref [2]
Sex             XY
Family history  inherited
Relative        BTK; A0460; brother
Relative        BTK; A0461; uncle 
//
ID              BTK_HUMAN;    ;#I651X652; IIX
Occurrence 1/1
Accession       K263
DBCrossRef      BTKbase:A0124
Original code   6/26
Description     frameshift deletion in the exon 19 leading to 
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., 
RefAuthors      Honsova, S., Hammarstrom, L., Muller, S., Nilsson, L.,  
RefAuthors      Fischer, A., Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4:51-58(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 71564
Feature           /change: -t
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 2084
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 651
Feature           /change: I -> IX
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;L652P; LP
Occurrence 1/1
Accession       K264
DBCrossRef      BTKbase:A0100
Original code   25
Description     missense mutation in the exon 19 leading to 
Description     amino acid change in TK domain
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
RefNumber       [2]
RefCrossRef     MEDLINE; 95108046
RefAuthors      Vihinen, M., Vetrie, D., Maniar, H. S., Ochs, H. D., Zhu,
RefAuthors      Q., Vorechovsky, I., Webster, A. D. B., Notarangelo, L. D.,
RefAuthors      Nilsson, L., Sowadski, J. M., Smith, C. I. E.
RefTitle        Structural basis for chromosome X-linked 
RefTitle        agammaglobulinemia: A tyrosine kinase disease
RefLoc          Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
DB CrossRef     OMIM; 300300.0051
DB CrossRef     SWISSCHANGE; BTK_HUMAN_70
DB CrossRef     SWISS-PROT; Q06187:652_652
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 71567
Feature           /change: t -> c
Feature           /genomic_region: exon; 19
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: missense 
Feature           /loc: EMBL: X58957; G312467; HSATK: 2087
Feature           /codon: cta -> cca; 2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: aa substitution
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 652
Feature           /change: L -> P
Feature           /domain: TK
Protein struct  domain-domain interactions; ref [2]
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 8; ga
Occurrence 1/1
Accession       K265
DBCrossRef      BTKbase:A0248
Original code   41
Description     a point mutation at intron 8 leading to aberrant splicing
Date            02-Feb-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 6)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; FI 0003 M81 G1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027:  60908
Feature           /change: g -> a
Feature           /genomic_region: intron; 8
Feature           /RE: +BseGI, +BstF5I, +FokI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: PH
mRNA level      nd
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 13; SLSTWPMAASX
Occurrence 2/2
Accession       K266
DBCrossRef      BTKbase:A0173
Original code   WKZ-5a
Description     point mutation at intron 13 leading to stop codon in TK 
Description     domain and a large deletion of protein.
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (15-May-1995) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans, Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands, 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64518
Feature           /change: a -> t
Feature           /genomic_region: intron; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1178..1349
Feature           /change: - gatcatggga aattgatcca aaggacctga ccttcttgaa 
Feature           /change:   ggagctgggg actggacaat ttggggtagt gaagtatggg 
Feature           /change:   aaatggagag gccagtacga cgtggccatc aagatgatca 
Feature           /change:   aagaaggctc catgtctgaa gatgaattca ttgaagaagc 
Feature           /change:   caaagtcatg at
Feature           /note: deletion of exon 14
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 384
Feature           /change: A -> GSWEIDPKDL TFLKELGTGQ FGVVKYGKWR GQYDVAIKMI
Feature           /change:      KEGSMSEDEF IEEAKVMIIF PMRSWCSCMA SAPSSAPSSS
Feature           /change:      SLSTWPMAAS X
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             4
Family history  inherited
Relative        BTK; A0174; brother
IgA             nd
IgG             1.1
IgM             0.1
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 13; GSWEIDPKDLTGNSLFLSDHGKLIQRTX
Occurrence 2/2
Accession       K268
DBCrossRef      BTKbase:A0277
Original code   WKZ-10(a)
Description     deletion at intron 13
Date            22-Apr-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (22-Apr-1996) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans, Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands, 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl.
RefNumber       [2]
RefCrossRef     MEDLINE; 97335603
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997) 
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 63968
Feature           /change: -t
Feature           /genomic_region: intron; 13
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /loc: EMBL: X58957; G312467; HSATK: 1310
Feature           /name: gain of exon sequence; frameshift 
Feature           /change: + gtaactcctt atttctctgg
Feature           /inexloc: +2
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 393..403
Feature           /change: GSWEIDPKDLT -> GNSLFLSDHGKLIQRTX
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             2
Family history  inherited
Relative        BTK; A0278; nephew
IgA             0.06
IgG             0.8
IgM             0.09
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 14; gt
Occurrence 1/1
Accession       K270
DBCrossRef      BTKbase:A0389
Description     point mutation at intron 14 leading to aberrant splicing
Date            15-May-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64696
Feature           /change: g -> t
Feature           /genomic_region: intron; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /domain: PH
Sex             XY
//
ID              BTK_HUMAN;    ;Intron 14; ga
Occurrence 1/1
Accession       K271
DBCrossRef      BTKbase:A0390
Description     point mutation at intron 14 leading to aberrant splicing
Date            15-May-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64696
Feature           /change: g -> a
Feature           /genomic_region: intron; 14
Feature           /RE: +Sse9I, +TasI, +Tsp509I, +TspEI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+5
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination 
Feature           /domain: PH
Sex             XY
//
ID              BTK_HUMAN;    ;Intron 14; NX
Occurrence 1/1
Accession       K272
DBCrossRef      BTKbase:A0279
Original code   WKZ-11; Intron 15(3)
Description     point mutation at intron 14
Date            22-Apr-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (22-Apr-1996) to the BTKbase.
RefLoc          Dr. Rik A. Brooimans, Wilhelmina Kinderziekenhuis, 
RefLoc          Postbus 18009,3501 CA Utrecht, The Netherlands, 
RefLoc          e-mail R.Brooimans@wkz.ruu.nl.
RefNumber       [2]
RefCrossRef     MEDLINE; 97335603
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997) 
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64696
Feature           /change: g -> a
Feature           /genomic_region: intron; 14
Feature           /RE: +Sse9I, +TasI, +Tsp509I, +TspEI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: gain of exon sequence; frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1481
Feature           /change: + gtgaattata gcccaaactc aactctcaat ctatttgctg 
Feature           /change:   gagtctagga attcacacaa caacccactg aggcttaaag 
Feature           /change:   atgacttaca
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 451
Feature           /change: N -> X 
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             2
Family history  inherited
IgA             0
IgG             0
IgM             0
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 14; GGIFPMRSWCSCMASAPSSAPSSSSLSTWPMAASX
Occurrence 1/1
Accession       K273
DBCrossRef      BTKbase:A0419
Description     point mutation at intron 14
Date            15-Sep-1996 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 3)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97335603
RefAuthors      Brooimans, R.A., van den Berg, J.A.M., Rijkers, G.T., 
RefAuthors      Sanders, L.A.M., van Amstel, J.K.P., Tilanus, M.G.J., 
RefAuthors      Grubben, M.J.A.L., Zegers, B.J.M.
RefTitle        Identification of novel Bruton's tyrosine kinase mutations 
RefTitle        in 10 unrelated subjects with X linked agammaglobulinemia
RefLoc          J. Med. Genet. 34: 484-488(1997) 
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 64692
Feature           /change: g -> t
Feature           /genomic_region: intron; 14
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1310..1481 
Feature           /change: - gatcatggga aattgatcca aaggacctga ccttcttgaa 
Feature           /change:   ggagctgggg actggacaat ttggggtagt gaagtatggg 
Feature           /change:   aaatggagag gccagtacga cgtggccatc aagatgatca 
Feature           /change:   aagaaggctc catgtctgaa gatgaattca ttgaagaagc 
Feature           /change:   caaagtcatg at
Feature           /note: deletion of exon 14
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 393
Feature           /change: G ->GIFPMRSWCSCMASAPSSAPSSSSLSTWPMAASX
Feature           /domain: TK
Protein struct  premature stop
//
ID              BTK_HUMAN;    ;Intron 15; AVCPGX
Occurrence 1/1
Accession       K274
DBCrossRef      BTKbase:A0039
Original code   P22
Description     deletion at intron 15 leading to a large deletion of 
Description     protein
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94377492
RefAuthors      Ohta, Y., Haire, R. N., Litman, R. T., Shu, M. F., Nelson,
RefAuthors      R. P., Kratz, J., Kornfeld, S. J., De La Morena, M., Good,
RefAuthors      R. A., Litman, G. W.
RefTitle        Genomic organization and structure of Bruton 
RefTitle        agammaglobulinemia tyrosine kinase: Localization of 
RefTitle        mutations associated with varied clinical presentations and
RefTitle        cource in X chromosome-linked agammaglobulinemia
RefLoc          Proc. Natl. Acad. Sci. 91:9062-9066(1994)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 66769..66772
Feature           /change: -tttg 
Feature           /genomic_region: intron; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc:EMBL: X58957; G312467; HSATK: 1567..1631
Feature           /change: - gcagctcgaa actgtttggt aaacgatcaa ggagttgtta 
Feature           /change:   aagtatctga tttcggcct gtccag
Feature           /note: exon 16 deletion
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 523
Feature           /change: A -> VCPGX 
Feature           /domain: TK
Protein struct  large deletion
Symptoms        moderate XLA
Sex             XY
Age             1.4
Family history  inherited
IgA             0.17
IgG             4.08
IgM             0.42
CD20            10
Comment         -!-Symptoms: recurrent URI
//
ID              BTK_HUMAN;    ;Intron 15; DQGVVKVSDFGLSRY
Occurrence 1/1
Accession       K275
DBCrossRef      BTKbase:A0185
Original code   23
Description     deletion at intron 15 leading to a large deletion of 
Description     protein
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (24-May-1995) to the BTKbase.
RefLoc          Dr. Hans D. Ochs, Dept of Pediatrics, University of 
RefLoc          Washington, Seattle, WA 98195, USA, 
RefLoc          e-mail allgau@u.washington.edu.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion; unknown
Feature           /changeLenght: -4 
Feature           /genomic_region: intron; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; inframe
Feature           /loc:EMBL: X58957; G312467; HSATK: 1350..1631
Feature           /change: - gaatctttcc catgagaagc tggtgcagtt gtatggcgtc 
Feature           /change:   tgcaccaagc agcgccccat cttcatcatc actgagtaca 
Feature           /change:   tggccaatgg ctgcctcctg aactacctga gggagatgcg 
Feature           /change:   ccaccgcttc cagactcagc agctgctaga gatgtgcaag 
Feature           /change:   gatgtctgtg aagccatgga atacctggag tcaaagcagt
Feature           /change:   tccttcaccg agacctggca gctcgaaact gtttggtaaa
Feature           /change:   cgatcaagga gttgttaaag tatctgattt cggcctgtcc ag
Feature           /note: deletion of exons 15 and 16
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: inframe deletion
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 451..545
Feature           /change: -NLSHEKLVQL YGVCTKQRPI FIITEYMANG CLLNYLREMR 
Feature           /change:  HRFQTQQLLE MCKDVCEAME YLESKQFLHR DLAARNCLVN 
Feature           /change:  DQGVVKVSDF GLSRY
Feature           /domain: TK
Protein struct  large deletion
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 15; gt
Occurrence 1/1
Accession       K276
DBCrossRef      BTKbase:A0405
Original code   H
Description     point mutation at intron 15 leading to aberrant splicing
Date            02-Jan-1997 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (01-Jan-1997) to the BTKbase.
RefLoc          Dr. C.I.E. Smith, Center for BioTechnology, Department of 
RefLoc          Biosciences at Novum, Karolinska Institute, S-14157
RefLoc          Huddinge, Sweden, e-mail edvard.smith@cbt.ki.se
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 65424
Feature           /change: g -> t
Feature           /genomic_region: intron; 15
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown 
Feature           /domain: TK
//
ID              BTK_HUMAN;    ;Intron 16; gt
Occurrence 1/1
Accession       K277
DBCrossRef      BTKbase:A0102
Original code   20
Description     point mutation at intron 16 
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 7)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95152494
RefAuthors      Conley, M. E., Fitch-Hilgenberg, M. E., Cleveland, J. L.
RefAuthors      Parolini, O., Rohrer, J.
RefTitle        Screening of genomic DNA to indentify mutations in the 
RefTitle        gene for Bruton's tyrosine kinase
RefLoc          Hum. Molec. Genet. 3: 1751-1756(1994)
DB CrossRef     OMIM; 300300.0041
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> t
Feature           /genomic_region: intron; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 16; RSX
Occurrence 1/1
Accession       K278
DBCrossRef      BTKbase:A0146
Original code   56; KNU
Description     point mutation at intron 16 leading to large insertion 
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359977
RefAuthors      Jin, H., Webster, A. D. B., Vihinen, M., Sideras, P., 
RefAuthors      Vorechovsky, I., Hammarstrom, L., 
RefAuthors      Bernatowska-Matuszkiewicz, E., Smith, C. I. E., Bobrow, M.,
RefAuthors      Vetrie, D.
RefTitle        Identification of Btk mutations in 20 unrelated patients
RefTitle        with X-linked agammaglobulinemia (XLA)
RefLoc          Hum. Molec. Genet. 4: 693-700(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> c
Feature           /genomic_region: intron; 16
Feature           /RE: +AluI, +BstDEI, +CviJI, +CviJI, +DdeI, +MspA1I, 
Feature           /RE: +MwoI, +NspBII, +PvuII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: gain of exon sequence; frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1764
Feature           /change: + ctgagtgtgg ctttttcatc tttccctcca gaagtaaaaa 
Feature           /change:   tagcacagta tgaaacatgg
Feature           /note: insertion of exon 16a
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> SX
Feature           /domain: TK
Protein struct  large insertion
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 16; gt
Occurrence 1/1
Accession       K279
DBCrossRef      BTKbase:A0189
Description     point mutation at intron 16
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (01-Jun-1995) to the BTKbase.
RefLoc          Patrizia Melia, Roberta Giuliani and Maurilia Florini, 
RefLoc          Dept. of Pediatrics and Institute of Chemistry,
RefLoc          University of Prescia I-25123 Brescia, Italy.
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> t
Feature           /genomic_region: intron; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Protein struct  aberrant splicing
Sex             XY
Age             3
Family history  inherited
IgA             < 0.066
IgG             2.00
IgM             0.082
CD19            <1
CD20            <1
Comment         -!-Family history: mother carrier 
//
ID              BTK_HUMAN;    ;Intron 16; gt
Occurrence 1/1
Accession       K280
DBCrossRef      BTKbase:A0249
Original code   MS
Description     mutation at intron 16 leading to aberrant splicing
Date            02-Feb-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97288998
RefAuthors      Vorechovsky, I., Luo, L., Hertz., J. M., Froland, S. S., 
RefAuthors      Fiorini, N., Quinti, I., Paganelli, R., Segers, R., 
RefAuthors      Hammarstrom, L., Webster, A. D. B., Smith, C. I. E.
RefTitle        Mutation pattern in the Bruton's tyrosine kinase gene in 
RefTitle        26 unrelated patients with X-linked agammaglobulinemia
RefLoc          Hum. Mut. 9:418-425 (1997)
DB CrossRef     ESID; IT 0436 MXX G1
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> t
Feature           /genomic_region: intron; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Protein struct  aberrant splicing
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 16; gt
Occurrence 1/1
Accession       K281
DBCrossRef      BTKbase:A0468
Original code   20.17; Intron 16(2)
Description     point mutation at intron 16 
Date            21-Apr-1998 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 8)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 97092684
RefAuthors      Farrar, J. E., Rohrer, J., Conley, M. E.
RefTitle        Neutropenia in X-linked agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 81:271-276(1996)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> t
Feature           /genomic_region: intron; 16
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
B cells surf Ig <1
Comment         -!-:Symptoms: neutropenia
//
ID              BTK_HUMAN;    ;Intron 16; RSX
Occurrence 1/1
Accession       K282
DBCrossRef      BTKbase:A0319
Original code   P31; @Y545+20(1)
Description     point mutation at intron 16 leading to large insertion
Date            19-Aug-1996 (Rel. 4, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 2)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96289505
RefAuthors      Hashimoto, S., Tsukada, S., Matsushita, M., Miyawaki, T., 
RefAuthors      Niida, Y., Yachie, A., Kobayashi, S., Iwata, T.,
RefAuthors      Hayakawa, H., Matsuoka, H., Tsuge, I., Yamadori, T.,
RefAuthors      Kunikata, T., Arai, S., Yoshizaki, K., Taniguchi, N., 
RefAuthors      Kishimoto, T.
RefTitle        Identification of Bruton's tyrosine kinase (Btk) gene
RefTitle        mutations and characterization of the derived proteins in
RefTitle        35 X-linked agammaglobulinemia families: a nationwide
RefTitle        study of Btk deficiency in Japan
RefLoc          Blood 88:561-573(1996)
RefNumber       [2]
RefCrossRef     MEDLINE; 98102441
RefAuthors      Futatani, T., Miyawaki, T., Tsukada, S., Hashimoto, S.,
RefAuthors      Kunikata, T., Arai, S., Kurimoto, T., Niida, Y., Matsuoka,
RefAuthors      H., Sakiyama, Y., Iwata, T., Tsuchiya, S., Tatsuzawa, O.,
RefAuthors      Yoshizaki, K., Kishimoto, T.
RefTitle        Deficient expression of Bruton's tyrosine kinase in
RefTitle        monocytes from X-linked agammaglobulinemia as evaulated by
RefTitle        a flow cytometric analysis and its clinical application to
RefTitle        carrier detection
RefLoc          Blood 91:595-602(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 66846
Feature           /change: g -> c
Feature           /genomic_region: intron; 16
Feature           /RE: +AluI, +BstDEI, +CviJI, +CviJI, +DdeI, +MspA1I, 
Feature           /RE: +MwoI, +NspBII, +PvuII, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: gain of exon sequence; frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1764
Feature           /change: + ctgagtgtgg ctttttcatc tttccctcca gaagtaaaaa 
Feature           /change:   tagcacagta tgaaacatgg
Feature           /inexloc: +1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: 
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 544
Feature           /change: R -> SX
Feature           /domain: TK
Protein level   absent; ref [2]
Kinase activity inactive; ref [2]
Sex             XY
Age             6
Ethnic origin   Mongoloid; Japan
Family history  inherited
IgA             < 0.05
IgG             < 0.50
IgM             0.07
B cells surf Ig 0.6
Comment         -!-Family history: two affected cousins
//
ID              BTK_HUMAN;    ;Intron 17; ga
Occurrence 1/1
Accession       K283
DBCrossRef      BTKbase:A0266
Original code   22.2; Splice 17(1)
Description     mutation at intron 17 leading to splice defect
Date            09-Jan-1996 (Rel. 3, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 96007207
RefAuthors      Conley, M. E., Rohrer, J.
RefTitle        The spectrum of mutations in Btk that cause X-linked
RefTitle        agammaglobulinemia
RefLoc          Clin. Immunol. Immunopathol. 76:S192-S197(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68124
Feature           /change: g -> a
Feature           /genomic_region: intron; 17
Feature           /RE: +BstDEI, +DdeI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:-1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Symptoms        mild XLA
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 17; +t
Occurrence 1/1
Accession       K284
DBCrossRef      BTKbase:A0391
Description     insertion at intron 17 leading to aberrant splicing
Date            15-May-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (27-Aug-1996) to the BTKbase.
RefLoc          Dr. Michael Weiss, prof. Dr. Bernd H. Belohradsky,
RefLoc          Abteilung fur Infektionsimmunologia, Dr. von Haunersches 
RefLoc          Kinderspital Klinikum Innenstadt der Universitat, Munchen,
RefLoc          Lindwurmstrasse 4, D-80337 Munchen, Germany, 
RefLoc          FAX 498 951 604 928.
RefLoc          Dr. Elke Holinski-Feder, Dr. Alfons Meindl, Abteilung fur
RefLoc          Padiatrische Genetik Kinderpoliklinik, Klinikum Innenstadt
RefLoc          der Universitat, Munchen, Goethestrasse 29, D-80336 
RefLoc          Munchen, Germany.
RefNumber       [2]
RefCrossRef     MEDLINE; 98118357
RefAuthors      Holinski-Feder, E., Weiss M., Brandau, O., Jedele, K. B.,
RefAuthors      Nore, B., Beckesj", C.-M., Vihinen, M.,  G"tz, G., Hubbard,
RefAuthors      S. R., Belohradsky, B. H., Smith, C. I. E., Meindl, A.
RefTitle        Mutation screening of the btk gene in 56 families with 
RefTitle        X-linked agammaglobulinemia (XLA) - 47 unique mutations
RefTitle        without correlation to clinical course
RefLoc          Pediatrics 101:276-284(1998)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: insertion
Feature           /loc: EMBL: Hsu78027: 67608
Feature           /change: +t
Feature           /genomic_region: intron; 17
Feature           /RE: +MseI, +Tru1I, +Tru9I, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc:+3
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /domain: PH
Sex             XY
//
ID              BTK_HUMAN;    ;Intron 17; -ERFTNSETAEHIAQGLRLYRPHLASEKVYT
Occurrence 1/1
Accession       K285
DBCrossRef      BTKbase:A0029
Original code   Intron 16(1)
Description     mutation at intron 17 leading to deletion of part of the
Description     C-terminal residues of the protein
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 7)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 94283589
RefAuthors      Duriez, B., Duquesnoy, P., Dastot, F., Bougneres, P., 
RefAuthors      Amselem, S., Goossens, M.
RefTitle        An exon-skipping mutation in the btk gene of a patient
RefTitle        with X-linked agammaglobulinemia and isolated growth
RefTitle        hormone deficiency
RefLoc          FEBS Letters 346:165-170(1994)
DB CrossRef     OMIM; 300300.0004
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 67610
Feature           /change: g -> a
Feature           /genomic_region: intron; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 1763..1882
Feature           /change: - gtatgtcctg gatgatgaat acacaagctc agtaggctcc 
Feature           /change:   aaatttccag tccggtggtc cccaccggaa gtcctgatgt 
Feature           /change:   atagcaagtt cagcagcaaa tctgacattt gggcttttg
Feature           /note: deletion of exon 17
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 599..659
Feature           /change: -ERFTNSETAE HIAQGLRLYR PHLASEKVYT 
Feature           /domain: TK
Protein struct  premature stop
Symptoms        classical XLA
Sex             XY
Age             2
Family history  inherited
IgA             0.05
IgG             0.08
IgM             0.05
Comment         -!-Symptoms: isolated growth hormone deficiency
//
ID              BTK_HUMAN;    ;Intron 17; gc
Occurrence 1/1
Accession       K286
DBCrossRef      BTKbase:A0444
Original code   G15645
Description     mutation at intron 17
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68124
Feature           /change: g -> c
Feature           /genomic_region: intron; 17
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /inexloc: -1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /domain: TK
Sex             XY
Ethnic origin   Caucasoid; UK
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 17; gc
Occurrence 2/2
Accession       K287
DBCrossRef      BTKbase:A0528
Original code   G16343a
Description     point mutation at intron 17
Date            19-Oct-1998  (Rel. 6, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (19-Oct-1998) to BTKbase.
RefLoc          Dr. Tracy Lester, Clinical Molecular Genetics Laboratory,
RefLoc          Level 5, Camelia Botnar Laboratories, Great Ormond Street 
RefLoc          Hospital for Children NHS Trust, Great Ormond Street,  
RefLoc          London, WC1N 3JH, 
RefLoc          e-mail tracy.lester@gosh-tr.nthames.nhs.uk
Feature         dna; 1
Feature           /rnalink; 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68124
Feature           /change: g -> c
Feature           /genomic_region: intron; 17
Feature         rna; 2
Feature           /dnalink; 1
Feature           /aalink; 3
Feature           /name: unknown
Feature           /inexloc:-1
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Family history  inherited
Ethnic origin   - ; Portugal
CD19            0
//
ID              BTK_HUMAN;    ;Intron 18; -KADERPTFKILLSNILDVMDEES
Occurrence 1/1
Accession       K289
DBCrossRef      BTKbase:A0126
Original code   29/2
Description     mutation at intron 18 causing deletion of exon 19
Date            30-May-1995 (Rel. 1, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95227177
RefAuthors      Vorechovsky, I., Vihinen, M., de Saint Basile, G., Honsova,
RefAuthors      S., Hammarstrom, L., Muller, S., Nilsson, L., Fischer, A.,
RefAuthors      Smith, C. I. E.
RefTitle        DNA-based mutation analysis of Bruton's tyrosine gene
RefTitle        in patients with X-linked agammaglobulinemia
RefLoc          Hum. Molec. Genet. 4(1):51-58(1995)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /genomic_region: intron; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /loc: EMBL: X58957; G312467; HSATK: 1909..1980
Feature           /name: loss of exon sequence; inframe
Feature           /change: - aaagcagatg agcgtcccac tttcaaaatt cttctgagca 
Feature           /change:   atattctaga tgtcatggat gaagaatcct ga
Feature           /note: deletion of exon 19
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 636..659
Feature           /change: -KADERPTFKI LLSNILDVMD EES
Feature           /domain: TK
Protein struct  premature stop
Sex             XY
Family history  inherited
//
ID              BTK_HUMAN;    ;Intron 18; GRSRX
Occurrence 1/1
Accession       K290
DBCrossRef      BTKbase:A0156
Original code   CHD; 13; #G584X587(1); G11466
Description     frameshift deletion in the exon 18 leading to
Description     stop codon in TK domain
Date            30-May-1995 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefCrossRef     MEDLINE; 95359987
RefAuthors      Gaspar, H. B., Bradley, L. A. D., Katz, F., Lovering, R.
RefAuthors      C., Roifman, C. M., Morgan, G., Levinsky, R. J.,
RefAuthors      Kinnon, C.
RefTitle        Mutation analysis in Bruton's tyrosine kinase, the X-
RefTitle        linked agammaglobulinemia, including identification of an
RefTitle        insertional hotspot
RefLoc          Hum. Molec. Genet. 4: 755-757(1995)
RefNumber       [2]
RefLoc          Submitted (06-Sep-1996) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: unknown
Feature           /change: unknown
Feature           /genomic_region: intron; 18
Feature           /RE: +FauI, 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: loss of exon sequence; frameshift
Feature           /loc: EMBL: X58957; G312467; HSATK: 2015..2172
Feature           /change: - gggttttgat gtgggaaatt tactccctgg ggaagatgcc 
Feature           /change:   atatgagaga tttactaaca gtgagactgc tgaacacatt 
Feature           /change:   gcccaaggcc tacgtctcta caggcctcat ctggcttcag 
Feature           /change:   agaaggtata taccatcatg tacagttgtt ggcatgag
Feature           /note: deletion of exon 18
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name:out of frame translation; premature termination
Feature           /loc: SWISSPROT: Q06187; BTK_HUMAN: 584 
Feature           /change: G-> RSRX
Feature           /domain: TK
mRNA level      aberrant splicing of exon 18
Symptoms        classical XLA
Sex             XY
Family history  inherited, no ?
B cells surf Ig <1
//
ID              BTK_HUMAN;    ;Intron 18; ga
Occurrence 2/2
Accession       K291
DBCrossRef      BTKbase:A0396
Original code   X11
Description     mutation and an inframe_deletion at intron 18 leading to 
Description     deletion of 
Date            02-Jan-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (02-Jan-1997) to the BTKbase.
RefLoc          Dr. Bratin K. Saha, Department of Pathology and 
RefLoc          Laboratory Medicine, 69 Butler St. SE 
RefLoc          Atlanta, GA 30303-3219, e-mail bsaha@emory.edu.
RefLoc          Fax: (404) 616-7455.
RefNumber       [2]
RefCrossRef     MEDLINE; 97406776
RefAuthors      Saha, B. K., Curtis S. K., Voles, L. B., Vihinen, M.
RefTitle        Molecular and structural characterization of five
RefTitle        novel mutations in the Bruton's tyrosine kinase gene
RefTitle        from patients with X-linked agammaglobulinemia
RefLoc          Molec. Med. 3:477-485(1997)
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: deletion
Feature           /loc: EMBL: Hsu78027: 68283
Feature           /change: g -> a
Feature           /genomic_region: intron; 18
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /name: unknown
Feature           /inexloc: +1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /name: unknown
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             1
Family history  inherited
Relative        BTK; A0397; brother
//
ID              BTK_HUMAN;    ;Intron 18; gt
Occurrence 3/3
Accession       K293
DBCrossRef      BTKbase:A0445
Original code   G6976a
Description     mutation at intron 18
Date            07-Sep-1997 (Rel. 5, Created)
Date            13-Apr-1999 (Rel. 7, Last updated, Version 1)
Disease         Agammaglobulinemia
RefNumber       [1]
RefLoc          Submitted (07-Sep-1997) to the BTKbase.
RefLoc          Dr. Tracy Lester, Unit of Clinical Genetics, Institute
RefLoc          of Child Health, 30 Guilford Street, London, WC1N 1EH, 
RefLoc          Tel 0171 242 9789 ext 2284, Fax 0171 404 6191
RefLoc          e-mail T.Lester@ich.ucl.ac.uk
Feature         dna; 1
Feature           /rnalink: 2
Feature           /name: point
Feature           /loc: EMBL: Hsu78027: 68283
Feature           /change: g -> t
Feature           /genomic_region: intron; 18
Feature           /RE: +MseI, +MseI, -MseI, -MseI, +Tru1I, +Tru1I, 
Feature           /RE: -Tru1I, -Tru1I, +Tru9I, +Tru9I, -Tru9I, -Tru9I, 
Feature           /RE: 
Feature         rna; 2
Feature           /dnalink: 1
Feature           /aalink: 3
Feature           /inexloc: +1 
Feature         aa; 3
Feature           /rnalink: 2
Feature           /domain: TK
Symptoms        classical XLA
Sex             XY
Age             3
Ethnic origin   Caucasoid; Australia
Family history  inherited
Relative        BTK; A0446; second cousin
Relative        BTK; A0447; second cousin
Comment         -!-Symptoms: lower RTI from 10 months
IgA             < 0.07
IgG             6.91
IgM             < 0.09
CD19            0
//