KinMutBase, a database of human disease-causing protein kinase mutations

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.

[1]  I. Kaitila,et al.  A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia , 1995, Nature Genetics.

[2]  M. Vihinen,et al.  BTKbase: XLA-mutation registry. , 1996, Immunology today.

[3]  C. Carter.  Mendelian Inheritance in Man , 1967 .

[4]  J. Flier,et al.  A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance. , 1990, The Journal of biological chemistry.

[5]  D. Rimoin,et al.  Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 , 1995, Nature Genetics.

[6]  R. Spritz,et al.  Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. , 1991, Proceedings of the National Academy of Sciences of the United States of America.

[7]  P. Goodfellow,et al.  Parent-of-origin effects in multiple endocrine neoplasia type 2B. , 1994, American journal of human genetics.

[8]  L. Mulligan,et al.  Mutations of the RET proto‐oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and Hirschsprung disease , 1997, Human mutation.

[9]  S. Hubbard,et al.  Crystal structure of the tyrosine kinase domain of the human insulin receptor , 1994, Nature.

[10]  H. Tonoki,et al.  Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis , 1996, Nature Genetics.

[11]  W. Kuo,et al.  ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency. , 1994, Science.

[12]  M. Vihinen,et al.  BTKbase, mutation database for X-linked agammaglobulinemia (XLA). , 1996, Nucleic acids research.

[13]  M Vihinen,et al.  Sequence specificity in CpG mutation hotspots , 1996, FEBS letters.

[14]  G. Condorelli,et al.  NIDDM Associated With Mutation in Tyrosine Kinase Domain of Insulin Receptor Gene , 1992, Diabetes.

[15]  J. Sowadski,et al.  Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. , 1994, Proceedings of the National Academy of Sciences of the United States of America.

[16]  V. McKusick.  Mendelian inheritance in man , 1971 .

[17]  L. Ashman,et al.  Identification of mutations in the coding sequence of the proto-oncogene c-kit in a human mast cell leukemia cell line causing ligand-independent activation of c-kit product. , 1993, The Journal of clinical investigation.

[18]  M. Vihinen,et al.  X‐linked agammaglobulinemia (XLA): A genetic tyrosine kinase (Btk) disease , 1996, BioEssays : news and reviews in molecular, cellular and developmental biology.