title: KinMutBase, a database of human disease-causing protein kinase mutations.
abstract: KinMutBase (http://www.uta.fi/laitokset/imt/KinMut Base.html) is a registry of mutations in human protein kinases related to disorders. Kinases are essential cellular signalling molecules, in which mutations can lead into diseases including, e.g., immunodeficiencies, cancers and endocrine disorders. The first release of KinMutBase contains information for nine protein tyrosine kinases. There are altogether 170 entries representing 273 families and 403 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, restriction enzyme patterns and online submission.
authors.affiliation: Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014, University of Helsinki, 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: D000595:Amino Acid Sequence; D017124:Conserved Sequence / Q000235:genetics; D016208:Databases, Factual / Q000639:trends; D005192:Family Health; D005787:Gene Frequency; D030342:Genetic Diseases, Inborn / Q000201:enzymology* / Q000235:genetics; D015894:Genome, Human; D006801:Humans; D020407:Internet; D009154:Mutation; D011487:Protein Conformation; D011494:Protein Kinases / Q000737:chemistry / Q000235:genetics*; D011505:Protein-Tyrosine Kinases / Q000235:genetics; D015183:Restriction Mapping; D015398:Signal Transduction
chemical_list: D011494:Protein Kinases; D011505:Protein-Tyrosine Kinases