Advanced

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

Vihinen, Mauno LU ; Brandau, O; Branden, LJ; Kwan, SP; Lappalainen, I; Lester, T; Noordzij, JG; Ochs, HD; Ollila, J and Pienaar, SM, et al. (1998) In Nucleic Acids Research 26(1). p.242-247
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 463 mutation entries from 406 unrelated families showing 303 unique molecular events, In addition to mutations, the database also lists variants or polymorphisms. 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... (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 463 mutation entries from 406 unrelated families showing 303 unique molecular events, In addition to mutations, the database also lists variants or polymorphisms. 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 that code for arginine residues. The putative structural implications of all the missense mutations are given in the database, The improved version of the registry having a number of new features is available at http://www.helsinki.fi/science/signal/btkbase.html. (Less)
Please use this url to cite or link to this publication:
author
, et al. (More)
(Less)
publishing date
type
Contribution to journal
publication status
published
subject
in
Nucleic Acids Research
volume
26
issue
1
pages
242 - 247
publisher
Oxford University Press
external identifiers
  • wos:000071778900057
  • scopus:0031804282
ISSN
1362-4962
DOI
10.1093/nar/26.1.242
language
English
LU publication?
no
id
931029f5-619f-4a73-a705-09ef6a9179bc (old id 3852705)
date added to LUP
2013-06-28 14:30:50
date last changed
2017-04-30 08:40:25
@article{931029f5-619f-4a73-a705-09ef6a9179bc,
  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 463 mutation entries from 406 unrelated families showing 303 unique molecular events, In addition to mutations, the database also lists variants or polymorphisms. 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 that code for arginine residues. The putative structural implications of all the missense mutations are given in the database, The improved version of the registry having a number of new features is available at http://www.helsinki.fi/science/signal/btkbase.html.},
  author       = {Vihinen, Mauno and Brandau, O and Branden, LJ and Kwan, SP and Lappalainen, I and Lester, T and Noordzij, JG and Ochs, HD and Ollila, J and Pienaar, SM and Riikonen, P and Saha, BK and Smith, CIE},
  issn         = {1362-4962},
  language     = {eng},
  number       = {1},
  pages        = {242--247},
  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/26.1.242},
  volume       = {26},
  year         = {1998},
}