Table 1 In Silico and Bioinformatics Analysis of the Variants
From: Novel MYO15A variants are associated with hearing loss in the two Iranian pedigrees
| Variant | c.T6442A:p.W2148R | c.10504dupT:p.C3502Lfs*15 |
|---|---|---|
| Locus | DFNB3 | DFNB3 |
| dbSNP rsID | Novel | Novel |
| ConSurf score | 8 | 8 |
| MutationTaster2 | Disease causing | Disease causing |
| SIFT | Damaging | deleterious |
| Polyphen2 | Probably damaging | Probably damaging |
| FATHMM | Damaging | Damaging |
| PROVEAN | Deleterious | Deleterious |
| MetaLR | Damaging | Not down |
| CADD_phred | 24.3 | Not down |
| PANTHER | Probably damaging | Probably damaging |
| Segregates in the family | Yes | Yes |