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- W2100064668 startingPage "e34573" @default.
- W2100064668 abstract "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.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 our approach on SNPs that could potentially influence protein Post Translational Modifications in ATM gene.In the lack of adequate prior reports on the possible deleterious effects of nsSNPs, we have systematically analyzed and characterized the functional variants in both coding and non coding region that can alter the expression and function of ATM gene. In silico characterization of nsSNPs affecting ATM gene function can aid in better understanding of genetic differences in disease susceptibility." @default.
- W2100064668 created "2016-06-24" @default.
- W2100064668 creator A5000368599 @default.
- W2100064668 creator A5004882772 @default.
- W2100064668 date "2012-04-13" @default.
- W2100064668 modified "2023-10-17" @default.
- W2100064668 title "Computational Refinement of Functional Single Nucleotide Polymorphisms Associated with ATM Gene" @default.
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- W2100064668 doi "https://doi.org/10.1371/journal.pone.0034573" @default.
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