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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, FIN-00014 University of Helsinki, Finland.
Nucleic Acids Research
|December 11, 1999
Summary
KinMutBase is a database cataloging mutations in human protein kinases, crucial for cell signaling. This registry aids in understanding how kinase mutations contribute to diseases like cancer and immunodeficiencies.
Area of Science:
- Biochemistry
- Genetics
- Bioinformatics
Background:
- Protein kinases are vital cellular signaling enzymes.
- Mutations in kinases can cause various diseases, including cancer, immunodeficiencies, and endocrine disorders.
- KinMutBase serves as a centralized registry for these mutations.
Purpose of the Study:
- To expand and update KinMutBase with new data on protein kinase mutations.
- To provide a comprehensive resource for studying the relationship between kinase mutations and human diseases.
Main Methods:
- The registry was updated to include serine/threonine protein kinases alongside existing protein tyrosine kinases.
- Data compilation involved collecting information on mutations, affected families, and patient cohorts.
- WWW pages were developed to display mutation statistics, clickable sequences, and restriction enzyme pattern changes.
Main Results:
- The current KinMutBase release contains 251 entries, covering 337 families and 621 patients.
- Mutations are documented in both conserved kinase residues and non-homologous sites.
- The database offers detailed mutation statistics and interactive sequence displays.
Conclusions:
- KinMutBase is a valuable and expanding resource for researchers studying kinase mutations and associated disorders.
- The database facilitates the understanding of mutation patterns and their impact on kinase function and human health.