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 |