KinMutBase -- a database of human disease-causing protein kinase mutations
What you can do:
Search for mutations in human protein kinases related to disorders.
Highlights:
- KinMutBase is a comprehensive knowledge base for human disease-related mutations in protein kinase domains.
- The latest version (2005) contains 582 different mutations for 1,790 cases in 1,322 families.
- KinMutBase entries are described on the DNA, mRNA, and protein level.
- Numbers for affected patients and families are also provided.
- KinMutBase has extensive amount of links and cross-references to literature, other databases, and information sources.
- There are numerous interactive pages about sequences, structures, mutation statistics, and diseases.
- Detailed statistical study was done on frequencies of different types of mutations both on the DNA and protein level in serine/threonine kinase (PSK) and tyrosine kinase (PTK).
- Three-dimensional structures indicate clustering of disease-related mutations mainly to conserved subdomains, and substrate and coligand binding amino acids, although mutations appear throughout the sequences.
- CpG containing codons, especially for arginine, constitute the majority of mutational hotspots.
Keywords:
- protein kinases
- human protein kinase mutations
- human disease-related protein kinase mutations
- human protein kinase domains
- human serine/threonine kinase (PSK)
- human tyrosine kinase (PTK)
- human cell signaling pathways
- human genetic disease genes
Literature & Tutorials:
PubMed Link: KinMutBase -- a database of human disease-causing protein kinase mutations
PubMed Link of 2005 update: KinMutBase: a registry of disease-causing mutations in protein kinase domains
PubMed Link of 2005 update: KinMutBase: a registry of disease-causing mutations in protein kinase domains
This record last updated: 04-03-2006