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

What you can do:
Search for mutations in human protein kinases related to disorders.
  • 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.
  • 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
This record last updated: 04-03-2006
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