000 a
999 _c15722
_d15722
003 OSt
005 20220107113149.0
008 211223b xxu||||| |||| 00| 0 eng d
040 _aAIKTC-KRRC
_cAIKTC-KRRC
100 _915026
_aTHAKOR, JINAL M.
245 _aPrediction of functional, structural and stability changes in pmm2 gene associated with nephrotic syndrome using computational analysis
250 _aVol.13(7)
260 _aM P
_bInnovare Academic Sciences Pvt Ltd
_c2021
300 _a87-93P.
520 _aObjective: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.
650 0 _94639
_aPHARMACEUTICS
700 _97153
_a Mistry, Kinnari N.
773 0 _dBhopal Innovare Academic Sciences Pvt Ltd
_tInternational journal of pharmacy and pharmaceutical science
_x2656-0097
856 _uhttps://innovareacademics.in/journals/index.php/ijpps/article/view/41802/24989
_yClick here
942 _2ddc
_cAR