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Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia

Vihinen, Mauno LU ; Kwan, SP; Lester, T; Ochs, HD; Resnick, I; Valiaho, J; Conley, ME and Smith, CIE (1999) In Human Mutation 13(4). p.280-285
Abstract
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK), A database (BTKbase) of BTX mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme, The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations... (More)
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK), A database (BTKbase) of BTX mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme, The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations are provided in the database. BTKbase is available at http://www.uta.fi/imt/bioinfo. Hum Mutat 13:280-285, 1999, (C) 1999 Wiley-Liss, Inc. (Less)
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author
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Bruton agammaglobulinemia tyrosine kinase, BTK, BTKbase, XLA, X-linked, agammaglobulinemia, database, immunodeficiency
in
Human Mutation
volume
13
issue
4
pages
280 - 285
publisher
John Wiley & Sons
external identifiers
  • wos:000079537300003
  • scopus:0033058967
ISSN
1059-7794
DOI
10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L
language
English
LU publication?
no
id
a94c7abf-7453-4df8-9d57-767f6cfb7cc0 (old id 3852333)
date added to LUP
2013-06-28 13:24:44
date last changed
2017-10-29 03:32:17
@article{a94c7abf-7453-4df8-9d57-767f6cfb7cc0,
  abstract     = {X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK), A database (BTKbase) of BTX mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of variants or polymorphisms have been found. Mutations in all the five domains of BTK cause the disease, the single most common event being missense mutations. Most mutations lead to truncation of the enzyme, The mutations appear almost uniformly throughout the molecule. About one-third of point mutations affect CpG sites, which usually code for arginine residues. The putative structural implications of all the missense mutations are provided in the database. BTKbase is available at http://www.uta.fi/imt/bioinfo. Hum Mutat 13:280-285, 1999, (C) 1999 Wiley-Liss, Inc.},
  author       = {Vihinen, Mauno and Kwan, SP and Lester, T and Ochs, HD and Resnick, I and Valiaho, J and Conley, ME and Smith, CIE},
  issn         = {1059-7794},
  keyword      = {Bruton agammaglobulinemia tyrosine kinase,BTK,BTKbase,XLA,X-linked,agammaglobulinemia,database,immunodeficiency},
  language     = {eng},
  number       = {4},
  pages        = {280--285},
  publisher    = {John Wiley & Sons},
  series       = {Human Mutation},
  title        = {Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia},
  url          = {http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:4<280::AID-HUMU3>3.0.CO;2-L},
  volume       = {13},
  year         = {1999},
}