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  1. Lowe Syndrome Mutation Database
    Full Name of the Resource : Mutations causing Lowe oculocerebrorenal syndrome
    Resource Category : Databases -> Human Genes and Diseases -> Gene-System or Disease-Specific Databases

    Brief Description : KinMutBase (http://www.uta.fi/imt/bioinfo/KinMutBase/) is a registry of mutations in human protein kinases related to disorders. Kinases are essential cellular signaling molecules, in which mutations can lead into diseases, including e.g. immunodeficiencies, cancers, and endocrine disorders. The first release of KinMutBase contained information for protein tyrosine kinases. The current release includes also ser/thr protein kinases, as well as an update of the tyrosine kinases. There are altogether 251 entries representing 337 families and 621 patients. Mutations appear both in conserved hallmark residues of the kinases as well as in nonhomologous sites. The KinMutBase WWW pages provide plenty of information, namely mutation statistics and display, clickable sequences with mutations and changes to restriction enzyme patterns.

    Institute/s :

    Department of Computer Science, University of Turku,

    Address of Institute/s :
    Lemminkäisenkatu 14A, FIN-20520 Turku, Finland
    Country : Finland

    Associated Institutes :

    • Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014 University of Helsinki, Finland
    • Institute of Medical Technology, University of Tampere, PO Box 607, FIN-33101 Tampere, Finland
    • Department of Computer Science, University of Turku, Lemmink√§isenkatu 14A, FIN-20520 Turku, Finland

    Associated Country : Finland


    Authors/Contributors : Mauno Vihinen
    Contact Email : mauno.vihinen@uta.fi
    Year : 2000
    Language : English