Abstract:

Phosphatase Tensin Homolog deleted on Chromosome 10 is a tumour suppressor gene frequently inactivated in human cancers. Single Nucleotide Polymorphisms (SNPs) are the substitution of one DNA nucleotide base with another and a commonly occurring genomic alteration. This study involved analyzing various missense SNPs of the PTEN gene using five different bioinformatics tools -SIFT, POLYPHEN, CADD, META LR, and MUTATION ASSESSOR to identify the tolerated from intolerant ones. String analysis of PTEN protein-protein interactions was also done using the STRING database. A total of 8298 missense SNPs were retrieved and analyzed using the five bioinformatics tools. Out of 8298 missense SNPs analyzed, SIFT categorized 5281 SNPs as deleterious, while POLYPHEN identified 4490 as damaging. CADD showed that 909 were disease-causing SNPs. META LR identified 2995 as damaging, and the MUTATION ASSESSOR identified 897 high-risk missense SNPs. This study shows that the various in silico tools are a good preliminary approach to identifying the harmful missense SNPs.

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