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

Summary, in English

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 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also some polymorphisms and site-directed mutations. Each patient is given a unique patient identity number (PIN). Information is provided 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. These hot spots have generally pyrimidines 5' and purines 3' to the mutated cytosine. A decreased frequency of missense mutations was found in the TH, SH3 and the upper lobe of the kinase domain, The putative structural implications of all the missense mutations are given in the database showing 228 unique molecular events, including a novel missense mutation causing an R28C substitution as previously seen in the Xid mouse.

• Author: Mauno Vihinen; BH Belohradsky; RN Haire; E HolinskiFeder; SP Kwan; I Lappalainen; H Lehvaslaiho; T Lester; A Meindl; HD Ochs; J Ollila; I Vorechovsky; M Weiss; CIE Smith
• Publishing year: 1997
• Language: English
• Pages: 166-171
• Publication/Series: Nucleic Acids Research
• Volume: 25
• Issue: 1
• Links: http://dx.doi.org/10.1093/nar/25.1.166
• Document type: Journal article
• Publisher: Oxford University Press
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1362-4962