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Literature DB >> 10592276

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.

Entities: Disease Species

Mesh：

Substances：
Protein Kinases

Year: 2000 PMID： 10592276 PMCID： PMC102425 DOI： 10.1093/nar/28.1.369

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

29 in total

1. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

Authors: M Vihinen; S P Kwan; T Lester; H D Ochs; I Resnick; J Väliaho; M E Conley; C I Smith
Journal: Hum Mutat Date: 1999 Impact factor: 4.878

Review 2. BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.

Authors: M Vihinen; P T Mattsson; C I Smith
Journal: Front Biosci Date: 1997-01-01

3. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Authors: L B Giebel; R A Spritz
Journal: Proc Natl Acad Sci U S A Date: 1991-10-01 Impact factor: 11.205

4. NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

Authors: S Cocozza; A Porcellini; G Riccardi; A Monticelli; G Condorelli; A Ferrara; L Pianese; C Miele; B Capaldo; F Beguinot
Journal: Diabetes Date: 1992-04 Impact factor: 9.461

5. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

Authors: M Vihinen; D Vetrie; H S Maniar; H D Ochs; Q Zhu; I Vorechovský; A D Webster; L D Notarangelo; L Nilsson; J M Sowadski
Journal: Proc Natl Acad Sci U S A Date: 1994-12-20 Impact factor: 11.205

6. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

Authors: A C Chan; T A Kadlecek; M E Elder; A H Filipovich; W L Kuo; M Iwashima; T G Parslow; A Weiss
Journal: Science Date: 1994-06-10 Impact factor: 47.728

7. 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.

Authors: T Furitsu; T Tsujimura; T Tono; H Ikeda; H Kitayama; U Koshimizu; H Sugahara; J H Butterfield; L K Ashman; Y Kanayama
Journal: J Clin Invest Date: 1993-10 Impact factor: 14.808

8. Crystal structure of the tyrosine kinase domain of the human insulin receptor.

Authors: S R Hubbard; L Wei; L Ellis; W A Hendrickson
Journal: Nature Date: 1994 Dec 22-29 Impact factor: 49.962

9. Parent-of-origin effects in multiple endocrine neoplasia type 2B.

Authors: K M Carlson; J Bracamontes; C E Jackson; R Clark; A Lacroix; S A Wells; P J Goodfellow
Journal: Am J Hum Genet Date: 1994-12 Impact factor: 11.025

10. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

Authors: P L Tavormina; R Shiang; L M Thompson; Y Z Zhu; D J Wilkin; R S Lachman; W R Wilcox; D L Rimoin; D H Cohn; J J Wasmuth
Journal: Nat Genet Date: 1995-03 Impact factor: 38.330

9 in total

1. Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

Authors: Anshuman Dixit; Ali Torkamani; Nicholas J Schork; Gennady Verkhivker
Journal: Biophys J Date: 2009-02 Impact factor: 4.033

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

1. Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

Review 2. BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.

3. Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

4. NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene.

5. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

6. ZAP-70 deficiency in an autosomal recessive form of severe combined immunodeficiency.

7. 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.

8. Crystal structure of the tyrosine kinase domain of the human insulin receptor.

9. Parent-of-origin effects in multiple endocrine neoplasia type 2B.

10. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.

1. Computational modeling of structurally conserved cancer mutations in the RET and MET kinases: the impact on protein structure, dynamics, and stability.

2. A rational free energy-based approach to understanding and targeting disease-causing missense mutations.

3. Human SBK1 is dysregulated in multiple cancers and promotes survival of ovary cancer SK-OV-3 cells.

Review 4. Exploring Missense Mutations in Tyrosine Kinases Implicated with Neurodegeneration.

5. The energy landscape analysis of cancer mutations in protein kinases.

6. Evolution of protein kinase substrate recognition at the active site.

7. KinaseMD: kinase mutations and drug response database.

8. Sequence and structure signatures of cancer mutation hotspots in protein kinases.

9. HKPocket: human kinase pocket database for drug design.