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 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.

• Författare: Mauno Vihinen; O Brandau; LJ Branden; SP Kwan; I Lappalainen; T Lester; JG Noordzij; HD Ochs; J Ollila; SM Pienaar; P Riikonen; BK Saha; CIE Smith
• Publiceringsår: 1998
• Språk: Engelska
• Sidor: 242-247
• Publikation/Tidskrift/Serie: Nucleic Acids Research
• Volym: 26
• Issue: 1
• Länkar: http://dx.doi.org/10.1093/nar/26.1.242
• Dokumenttyp: Artikel i tidskrift
• Förlag: Oxford University Press
• Ämne: Medical Genetics
• Status: Published
• ISBN/ISSN/Övrigt: ISSN: 1362-4962