Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational 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.