Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis
By: THAKOR, JINAL M
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Contributor(s): Mistry, Kinnari N.
Publisher: M P Innovare Academic Sciences Pvt Ltd 2021Edition: Vol.13(7).Description: 87-93P.Subject(s): PHARMACEUTICSOnline resources: Click here
In:
International journal of pharmacy and pharmaceutical scienceSummary: 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.
| Item type | Current location | Call number | Status | Date due | Barcode | Item holds |
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Articles Abstract Database
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School of Pharmacy Archieval Section | Not for loan | 2021-2022542 |
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.
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