title: BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
abstract: 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
authors.affiliation: Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014 University of Helsinki, Finland. mauno.vihinen@helsinki.fi
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
authors.forename: O
authors.initials: O
authors.lastname: Brandau
authors.forename: L J
authors.initials: LJ
authors.lastname: Brandén
authors.forename: S P
authors.initials: SP
authors.lastname: Kwan
authors.forename: I
authors.initials: I
authors.lastname: Lappalainen
authors.forename: T
authors.initials: T
authors.lastname: Lester
authors.forename: J G
authors.initials: JG
authors.lastname: Noordzij
authors.forename: H D
authors.initials: HD
authors.lastname: Ochs
authors.forename: J
authors.initials: J
authors.lastname: Ollila
authors.forename: S M
authors.initials: SM
authors.lastname: Pienaar
authors.forename: P
authors.initials: P
authors.lastname: Riikonen
authors.forename: B K
authors.initials: BK
authors.lastname: Saha
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
mesh_terms: D000077329:Agammaglobulinaemia Tyrosine Kinase; D000361:Agammaglobulinemia / Q000235:genetics*; D000595:Amino Acid Sequence; D003195:Computer Communication Networks; D016208:Databases, Factual; D006801:Humans; D016247:Information Storage and Retrieval; D008969:Molecular Sequence Data; D009154:Mutation; D011505:Protein-Tyrosine Kinases / Q000235:genetics*; D014960:X Chromosome
chemical_list: D011505:Protein-Tyrosine Kinases; D000077329:Agammaglobulinaemia Tyrosine Kinase; C000625949:BTK protein, human