• 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



nsSNP, PMM2, Nephrotic syndrome, Insilico 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.


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How to Cite

THAKOR, J. M., K. N. MISTRY, S. GANG, D. N. RANK, and C. G. JOSHI. “PREDICTION OF FUNCTIONAL, STRUCTURAL AND STABILITY CHANGES IN PMM2 GENE ASSOCIATED WITH NEPHROTIC SYNDROME USING COMPUTATIONAL ANALYSIS”. International Journal of Pharmacy and Pharmaceutical Sciences, vol. 13, no. 7, July 2021, pp. 87-93, doi:10.22159/ijpps.2021v13i7.41802.



Original Article(s)