PREDICTION OF FUNCTIONAL, STRUCTURAL AND STABILITY CHANGES IN PMM2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME USING COMPUTATIONAL ANALYSIS
Keywords:nsSNP, PMM2, Nephrotic syndrome, Insilico analysis
Objective: Nephrotic syndrome defines as a disorder with a group of symptoms like proteinuria, hypoalbuminemia, hyperlipidemia, and edema. PMM2 encodes phosphomannosemutase protein enzyme involved in the synthesis of N-glycan.
Methods: Different Insilico analysis tools: SIFT, PolyPhen, PROVEAN, SNPandGO, MetaSNP, PhDSNP, MutPred, I-Mutant, STRUM, PROCHECK-Ramachandran, COACH and ConSurf, were used to check the effect of nsSNP on protein structure and function.
Results: The genetic polymorphism in the PMM2 gene was retrieved from NCBI ClinVar and UniProtKB. Total 20 SNPs were predicted most significant and responsible for disease-causing and decrease protein stability.
Conclusion: This study helps to discover disease-causing deleterious SNPs with different computational tools and gives information about potent SNPs.
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