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  1. BTKbase (View Publication)
    Full Name of the Resource : Mutation registry for X-linked agammaglobulinemia
    Resource Category : Databases -> Human Genes and Diseases -> Gene-System or Disease-Specific Databases

    Brief Description : X-linked agammaglobulinemia (XLA; OMIM 300300) is an immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (BTK). Patients with XLA have decreased number of mature B cells and lack of all immunoglobulin isotypes causing susceptibility to severe bacterial infections. Hereditary immunodeficiency-causing mutations are collected into ImmunoDeficiency mutation databases (IDbases) (1), which are available at IDbases contain mutation data, both published and directly submitted information. For each patient the following information is given (when available): The identification of the entry and plain English description of the mutation are followed by reference and formal characterisation of the mutation. Last are the various parameters from the patient. IDbases are maintained with MUTbase program suite (2) which provides an easy, interactive and quality controlled submission of information to mutation databases. For further study of the databases on the World Wide Web, a number of tools are provided. The program package also writes and updates a large number of Web pages e.g. about distribution and statistics of disease-causing mutations, and changes in restriction patterns. The BTK is crucial for signalling in B cells. It belongs to the Tec family of cytoplasmic protein tyrosine kinases. The Tec family proteins consist of five distinct structural domains, which are from the N-terminus, a pleckstrin homology (PH) domain, a Tec homology (TH) domain, a Src homology 3 (SH3) domain, a SH2 domain, and the catalytic kinase domain. Mutations in all the five domains cause XLA. The structural consequences of the mutations have been studied based on crystallographic and NMR structures as well as computer-aided molecular modelling.

    Institute/s :
    Institute of Medical Technology, FIN-33014 University of Tampere, Finland
    Center for BioTechnology, Department of Biosciences at Novum, Karolinska Institute, S-14157 Huddinge, Sweden
    Research Unit, Tampere University Hospital, FIN-33520 Tampere, Finland

    Country : Finland; Sweden

    Associated Institutes :

    • Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014 University of Helsinki, Finland
    • Abteilung für Pädiatrische Genetik, Kinderpoliklinik, Klinikum Innenstadt der Universität München, Goethestrasse 29, D-80336 München, Germany
    • Center for BioTechnology, Department of Biosciences at Novum, Karolinska Institute, S-14157 Huddinge, Sweden
    • Department of Immunology, Microbiology, Pathology and Infectous Diseases (IMPI), Karolinska Institute, Huddinge University Hospital, S-14186 Huddinge, Sweden
    • Department of Immunology, Rush Medical School, Chicago, IL 60612, USA
    • Unit of Clinical Genetics, Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK
    • Department of Immunology, Erasmus University Rotterdam, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    • Department of Pediatrics, University of Washington, Seattle, WA 98195, USA
    • ICH Laboratory, Red Cross Children\'s Hospital, Cape Town 7700, South Africa
    • Department of Pathology, Emory University/GHS, Atlanta, GA 30303, USA

    Associated Country : Finland; Germany; Sweden; USA; United Kingdom; Netherlands; South Africa

    Authors/Contributors : Väliaho, J
    Contact Email :
    Year : 1998
    Language : English

    Keywords : Agammaglobulinemia / enzymology / *genetics; Amino Acid Sequence; *Databases, Factual; Genetic Linkage; Humans; Models, Molecular; Molecular Sequence Data; Mutation; Protein-Tyrosine Kinases / chemistry / *genetics; *X Chromosome