KinMutBase: A registry of disease-causing mutations in protein kinase domains
  • Metaadatok
Tartalom: http://dx.doi.org/10.1002/humu.20166
Archívum: MTA Könyvtár
Gyűjtemény: Status = Published


Type = Article
Cím:
KinMutBase: A registry of disease-causing mutations in protein kinase domains
Létrehozó:
Ortutay, Csaba
Valiaho, Jouni
Stenberg, Kaj
Vihinen, Mauno
Kiadó:
Wiley-Blackwell
Dátum:
2005-05
Téma:
QH301 Biology / biológia
ZA4450 Databases / adatbázisok
Tartalmi leírás:
A large number of disease-causing mutations have been identified from several protein kinases. KinMutBase is a
comprehensive knowledge base for human disease-related mutations in protein kinase domains (http://bioinf.uta.fi/KinMutBase/). The latest version 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. There are certain clear differences in mutation patterns and types between PSKs and PTKs.
Típus:
Article
PeerReviewed
Formátum:
application/pdf
Azonosító:
Ortutay, Csaba and Valiaho, Jouni and Stenberg, Kaj and Vihinen, Mauno (2005) KinMutBase: A registry of disease-causing mutations in protein kinase domains. Human Mutation, 25 (5). pp. 435-442. ISSN 1059-7794 (print), 1098-1004 (online)
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