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Mutations of the human BTK gene coding for bruton tyrosine kinase in X‐linked agammaglobulinemia
Author(s) -
Vihinen Mauno,
Kwan SauPing,
Lester Tracy,
Ochs Hans D.,
Resnick Igor,
Väliaho Jouni,
Conley Mary Ellen,
Smith C.I. Edvard
Publication year - 1999
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1999)13:4<280::aid-humu3>3.0.co;2-l
Subject(s) - bruton's tyrosine kinase , biology , x linked agammaglobulinemia , genetics , gene , mutation , tyrosine kinase , cancer research , microbiology and biotechnology , signal transduction
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK 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.