Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis
THAKOR, JINAL M.
Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis - Vol.13(7) - M P Innovare Academic Sciences Pvt Ltd 2021 - 87-93P.
Objective:Nephrotic syndrome defines as a disorder with a group of symptoms like proteinuria, hypoalbuminemia, hyperlipidemia, and edema.PMM2encodes 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 thePMM2gene was retrieved from NCBI ClinVar and UniProtKB. Total20 SNPs were predicted most significant and responsible for disease-causing and decrease protein stability.Conclusion:Keywords:nsSNP, PMM2, Nephrotic syndrome, Insilico analysisThis study helps to discover disease-causing deleterious SNPs with different computational tools and gives information about potent SNPs.
PHARMACEUTICS
Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis - Vol.13(7) - M P Innovare Academic Sciences Pvt Ltd 2021 - 87-93P.
Objective:Nephrotic syndrome defines as a disorder with a group of symptoms like proteinuria, hypoalbuminemia, hyperlipidemia, and edema.PMM2encodes 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 thePMM2gene was retrieved from NCBI ClinVar and UniProtKB. Total20 SNPs were predicted most significant and responsible for disease-causing and decrease protein stability.Conclusion:Keywords:nsSNP, PMM2, Nephrotic syndrome, Insilico analysisThis study helps to discover disease-causing deleterious SNPs with different computational tools and gives information about potent SNPs.
PHARMACEUTICS