title: Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
abstract: 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.
authors.affiliation: Institute of Medical Technology, University of Tampere, Finland. mauno.vihinen@uta.fi
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
authors.forename: S P
authors.initials: SP
authors.lastname: Kwan
authors.forename: T
authors.initials: T
authors.lastname: Lester
authors.forename: H D
authors.initials: HD
authors.lastname: Ochs
authors.forename: I
authors.initials: I
authors.lastname: Resnick
authors.forename: J
authors.initials: J
authors.lastname: Väliaho
authors.forename: M E
authors.initials: ME
authors.lastname: Conley
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics*; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D008040:Genetic Linkage; D006801:Humans; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009154:Mutation; D011110:Polymorphism, Genetic; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human