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KinMutBase, a database of human disease-causing protein kinase mutations
K A Stenberg1, P T Riikonen, M Vihinen
1Department of Biosciences, Division of Biochemistry, PO Box 56, FIN-00014, University of Helsinki, Helsinki, Finland.
Nucleic Acids Research
|December 10, 1998
Summary
KinMutBase is a new registry detailing mutations in human protein kinases linked to diseases like cancer. This resource tracks genetic alterations in these crucial signaling molecules, aiding disease research.
Area of Science:
- Biochemistry
- Genetics
- Molecular Biology
Background:
- Protein kinases are vital cellular signaling molecules.
- Mutations in kinases can cause diseases such as immunodeficiencies, cancers, and endocrine disorders.
Purpose of the Study:
- To establish KinMutBase, a comprehensive registry of mutations in human protein kinases associated with disorders.
- To provide a centralized resource for studying kinase mutations and their disease implications.
Main Methods:
- Compilation of mutation data from human protein kinases involved in disease.
- Database development and web interface creation for KinMutBase.
- Inclusion of mutation statistics, sequence displays, and restriction enzyme patterns.
Main Results:
- The first release of KinMutBase includes data for nine protein tyrosine kinases.
- The registry contains 170 entries, covering 273 families and 403 patients.
- Mutations are documented in both conserved and non-homologous sites within kinases.
Conclusions:
- KinMutBase serves as a valuable resource for researchers studying the role of kinase mutations in human diseases.
- The database facilitates the analysis of mutation patterns and their correlation with specific disorders.
- Online submission allows for continuous expansion and updating of the kinase mutation registry.