Characterization of pathogenic germline mutations in human protein kinases.

ABSTRACT:

Background

Protein Kinases are a superfamily of proteins involved in crucial cellular processes such as cell cycle regulation and signal transduction. Accordingly, they play an important role in cancer biology. To contribute to the study of the relation between kinases and disease we compared pathogenic mutations to neutral mutations as an extension to our previous analysis of cancer somatic mutations. First, we analyzed native and mutant proteins in terms of amino acid composition. Secondly, mutations were characterized according to their potential structural effects and finally, we assessed the location of the different classes of polymorphisms with respect to kinase-relevant positions in terms of subfamily specificity, conservation, accessibility and functional sites.

Results

SUBMITTER: Izarzugaza JM 

PROVIDER: S-EPMC3194193 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature