is a registry of mutations in
human protein kinases related to disorders.
Kinases are essential cellular signaling molecules, in which mutations can
lead to diseases, including immunodeficiencies, cancers and endocrine disorders.
The first release of KinMutBase contained information for protein tyrosine kinases.
In the second release includes also serine/threonine protein kinases, as well as an update of the tyrosine kinases. There are 251 entries altogether, representing 337 families and 621 patients.
KinMutBase version 3.0 contains 582 mutations in 20 tyrosine kinase domains and 13 serine/threonine kinase domains. The database refers 1790 cases from 1322 families.
Mutations appear both in conserved hallmark residues of the kinases as well as in non-homologous sites. The KinMutBase WWW pages provide plenty of information, namely mutation statistics and display, clickable sequences with mutations and changes to restriction enzyme patterns.
See the latest article about KinMutBase in Human Mutation. Please cite this article when you refer to KinMutBase:
Ortutay C, Valiaho J, Stenberg K, Vihinen M. KinMutBase: A registry of disease-causing mutations in protein kinase domains. Hum Mutat. 2005 Apr 14;25(5):435-442
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