Advanced

BTKbase, mutation database for X-linked agammaglobulinemia (XLA)

Vihinen, Mauno LU ; Iwata, T; Kinnon, C; Kwan, SP; Ochs, HD; Vorechovsky, I and Smith, CIE (1996) In Nucleic Acids Research 24(1). p.160-165
Abstract
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. A decreased frequency of missense mutations was found in... (More)
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. A decreased frequency of missense mutations was found in the TH, SH3 and upper lobe of the kinase domain. The putative structural implications of all the missense mutations are given in the database. (Less)
Please use this url to cite or link to this publication:
author
publishing date
type
Contribution to journal
publication status
published
subject
in
Nucleic Acids Research
volume
24
issue
1
pages
160 - 165
publisher
Oxford University Press
external identifiers
  • wos:A1996TR97500037
  • scopus:0029976256
ISSN
1362-4962
DOI
10.1093/nar/24.1.160
language
English
LU publication?
no
id
2d91f8f1-419e-42f6-b9e7-691edf0c44c0 (old id 3853121)
date added to LUP
2013-06-28 14:36:21
date last changed
2017-05-07 03:38:12
@article{2d91f8f1-419e-42f6-b9e7-691edf0c44c0,
  abstract     = {X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 225 entries from 189 unrelated families showing 148 unique molecular events. Each patient is given a unique patient identity number (PIN). Information is included regarding the phenotype including symptoms. Mutations in all the five domains of BTK have been noticed to cause the disease, the most common event being missense mutations. The mutations appear almost uniformly throughout the molecule and frequently affect CpG sites forming arginine residues. A decreased frequency of missense mutations was found in the TH, SH3 and upper lobe of the kinase domain. The putative structural implications of all the missense mutations are given in the database.},
  author       = {Vihinen, Mauno and Iwata, T and Kinnon, C and Kwan, SP and Ochs, HD and Vorechovsky, I and Smith, CIE},
  issn         = {1362-4962},
  language     = {eng},
  number       = {1},
  pages        = {160--165},
  publisher    = {Oxford University Press},
  series       = {Nucleic Acids Research},
  title        = {BTKbase, mutation database for X-linked agammaglobulinemia (XLA)},
  url          = {http://dx.doi.org/10.1093/nar/24.1.160},
  volume       = {24},
  year         = {1996},
}