Ontology highlight
ABSTRACT:
SUBMITTER: Torkamani A
PROVIDER: S-EPMC2449356 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Torkamani Ali A Kannan Natarajan N Taylor Susan S SS Schork Nicholas J NJ
Proceedings of the National Academy of Sciences of the United States of America 20080625 26
The catalytic domain of protein kinases harbors a large number of disease-causing single nucleotide polymorphisms (SNPs) and common or neutral SNPs that are not known or hypothesized to be associated with any disease. Distinguishing these two types of polymorphisms is critical in accurately predicting the causative role of SNPs in both candidate gene and genome-wide association studies. In this study, we have analyzed the structural location of common and disease-associated SNPs in the catalytic ...[more]