Computational refinement of functional single nucleotide polymorphisms associated with ATM gene.

ABSTRACT:

Background

Understanding and predicting molecular basis of disease is one of the major challenges in modern biology and medicine. SNPs associated with complex disorders can create, destroy, or modify protein coding sites. Single amino acid substitutions in the ATM gene are the most common forms of genetic variations that account for various forms of cancer. However, the extent to which SNPs interferes with the gene regulation and affects cancer susceptibility remains largely unknown.

Principal findings

We analyzed the deleterious nsSNPs associated with ATM gene based on different computational methods. An integrative scoring system and sequence conservation of amino acid residues was adapted for a priori nsSNP analysis of variants associated with cancer. We further extended

SUBMITTER: George Priya Doss C 

PROVIDER: S-EPMC3326031 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature