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 id | Substitution | Frequency | SIFT | PolyPhen | Mutation assessor | Mutation Taster | PROVEAN | Condel | M-CAP | LRT | Predict SNP | MAPP | PhD-SNP | SNAP | PANTHER |
| | rs886041668 | S42P | - | D | PD | M | D | D | D | D | D | D | D | D | D | D | | rs1230238574 | H103D | 0,00001 (1/125568, topmed) | D | PD | M | D | D | D | D | D | D | D | D | D | D | | rs796053355 | R190W | - | D | PD | M | D | D | D | D | D | D | D | D | D | - | | rs796053359 | R235G | - | D | PD | M | D | D | D | D | D | D | D | D | D | - | | rs587784456 | D238E | - | D | PD | M | D | D | D | D | D | D | D | D | D | - | | rs1057524834 | L256P | - | D | PD | M | D | D | D | D | D | D | D | D | D | D | | rs1085307916 | P335S | - | D | PD | M | D | D | D | D | D | D | N | D | N | D | | rs796053365 | C354Y | - | D | PD | M | D | D | D | D | D | D | D | D | D | D | | rs796053358 | L365V | 0,00000 (1/246266, GenomAD) | D | PD | L | D | D | D | D | D | N | N | N | N | D | | rs796053367 | R406C | - | D | PD | M | D | D | D | D | D | D | D | D | D | - | | rs121918317 | G544D | - | D | PD | M | N | D | D | D | D | D | D | D | D | - |
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N: Neutral; D: Deleterious; PD: probably damaging; M: medium; L: low; -: unknown.
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