In:
International Journal of Pharmacy and Pharmaceutical Sciences, Innovare Academic Sciences Pvt Ltd, ( 2021-07-01), p. 87-93
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
0975-1491
,
2656-0097
DOI:
10.22159/ijpps.2021v13i7.41802
Language:
Unknown
Publisher:
Innovare Academic Sciences Pvt Ltd
Publication Date:
2021
detail.hit.zdb_id:
2503459-5
SSG:
15,3
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