PREDICTION OF FUNCTIONAL, STRUCTURAL AND STABILITY CHANGES IN PMM2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME USING COMPUTATIONAL ANALYSIS

JINAL M. THAKOR; KINNARI N. MISTRY; SISHIR GANG; DHARAMSHIBHAI N. RANK; CHAITANYA G. JOSHI

doi:10.22159/ijpps.2021v13i7.41802

Authors

JINAL M. THAKOR Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, Vallabh Vidyanagar, 388121, Anand, Gujarat, India
KINNARI N. MISTRY Ashok and Rita Patel Institute of Integrated Study and Research in Biotechnology and Allied Sciences, Vallabh Vidyanagar, 388121, Anand, Gujarat, India
SISHIR GANG Muljibhai Patel Urological Hospital, Dr. V. V. Desai Road, Nadiad, 387001, Gujarat, India
DHARAMSHIBHAI N. RANK Department of Animal Breeding and Genetics, College of Veterinary Sciences and Animal Husbandry, Anand Agricultural University, Anand 388110, Gujarat, India
CHAITANYA G. JOSHI Department of Animal Biotechnology, College of Veterinary Sciences and Animal Husbandry, Anand Agricultural University, Anand 388110, Gujarat, India

DOI:

https://doi.org/10.22159/ijpps.2021v13i7.41802

Keywords:

nsSNP, PMM2, Nephrotic syndrome, Insilico analysis

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.

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