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 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: Mauno Vihinen; T Iwata; C Kinnon; SP Kwan; HD Ochs; I Vorechovsky; CIE Smith
• Publishing year: 1996
• Language: English
• Pages: 160-165
• Publication/Series: Nucleic Acids Research
• Volume: 24
• Issue: 1
• Links: http://dx.doi.org/10.1093/nar/24.1.160
• Document type: Journal article
• Publisher: Oxford University Press
• Topic: Medical Genetics
• Status: Published
• ISBN/ISSN/Other: ISSN: 1362-4962