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

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Author

  • Mauno Vihinen
  • SP Kwan
  • T Lester
  • HD Ochs
  • I Resnick
  • J Valiaho
  • ME Conley
  • CIE Smith

Summary, in English

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.

Publishing year

1999

Language

English

Pages

280-285

Publication/Series

Human Mutation

Volume

13

Issue

4

Document type

Journal article

Publisher

John Wiley & Sons Inc.

Topic

  • Medical Genetics

Keywords

  • Bruton agammaglobulinemia tyrosine kinase
  • BTK
  • BTKbase
  • XLA
  • X-linked
  • agammaglobulinemia
  • database
  • immunodeficiency

Status

Published

ISBN/ISSN/Other

  • ISSN: 1059-7794