Research Article

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease

Table 2

Results of the deleterious STXBP1 gene SNPs predicted by 13 prediction tools.

SNP idSubstitutionFrequencySIFTPolyPhenMutation assessorMutation TasterPROVEANCondelM-CAPLRTPredict SNPMAPPPhD-SNPSNAPPANTHER

rs886041668S42P-DPDMDDDDDDDDDD
rs1230238574H103D0,00001 (1/125568, topmed)DPDMDDDDDDDDDD
rs796053355R190W-DPDMDDDDDDDDD-
rs796053359R235G-DPDMDDDDDDDDD-
rs587784456D238E-DPDMDDDDDDDDD-
rs1057524834L256P-DPDMDDDDDDDDDD
rs1085307916P335S-DPDMDDDDDDNDND
rs796053365C354Y-DPDMDDDDDDDDDD
rs796053358L365V0,00000 (1/246266, GenomAD)DPDLDDDDDNNNND
rs796053367R406C-DPDMDDDDDDDDD-
rs121918317G544D-DPDMNDDDDDDDD-

N: Neutral; D: Deleterious; PD: probably damaging; M: medium; L: low; -: unknown.