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Prediction of deleterious non synonymous single nucleotide polymorphisms of HSPA5 gene using in silico studies | Abstract
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Abstract

Prediction of deleterious non synonymous single nucleotide polymorphisms of HSPA5 gene using in silico studies

Author(s): Lekshmi Mohan and Divanshu Gupta

SNP is the type of genetic variation which is occurring most frequently in the living system, causing single nucleotide change in the gene which leads to altered structure and function. This helps in understanding the genetics behind many complex diseases along with human phenotypic variations as well. Identification of functional SNPs in a disease related gene is still a challenge. Using computational methods, we have analyzed the genetic variations which affect the structure of HSPA5, thus altering the functionality, leading to disease like carcinomas. 33 SNPs were filtered as non synonymous missense mutations related with humans in HSPA5. The tools like SIFT, Polyphen-2, I Mutant 2.0, SNPs&GO, PhD-SNP were used for carrying the genetic variation studies. Among these 33, 5 SNPs were predicted to be deleterious by most of the tools.