title: KinMutBase, a database of human disease-causing protein kinase mutations.
abstract: 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 to diseases, including immunodeficiencies, cancers and endocrine disorders. The first release of KinMutBase contained information for protein tyrosine kinases. The current 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. 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.
authors.affiliation: Department of Biosciences, Division of Biochemistry, FIN-00014 University of Helsinki, Finland.
authors.forename: K A
authors.initials: KA
authors.lastname: Stenberg
authors.forename: P T
authors.initials: PT
authors.lastname: Riikonen
authors.forename: M
authors.initials: M
authors.lastname: Vihinen
mesh_terms: D016208:Databases, Factual; D030342:Genetic Diseases, Inborn / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011494:Protein Kinases / Q000235:genetics*
chemical_list: D011494:Protein Kinases