TY  - GEN
AU  - THAKOR, JINAL M. 
AU  -  Mistry,  Kinnari N.
TI  - Prediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis 
PY  - 2021///
CY  - M P
PB  - Innovare Academic Sciences Pvt Ltd
KW  - PHARMACEUTICS
N2  - 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
UR  - https://innovareacademics.in/journals/index.php/ijpps/article/view/41802/24989
ER  -