THAKOR, JINAL M.  <br/><br/>
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. 
<br/><br/> 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. 
<br/><br/><label>Subjects--Topical Terms: </label><br/>PHARMACEUTICS