Table 1 Prediction of pathogenicity of the homozygous mutation c.251T>C in the PDZD7 gene
From: A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
Gene (RefSeq) | Mutation | PROVEAN | SIFT | Polyphen | Mutation Taster | Mutation Assessor | CAAD-Phred | Phenotype |
|---|---|---|---|---|---|---|---|---|
PDZD7 (NM_001195263) | c.251T>C (I84T) | D | D | D | D | L | 19.25 | ARNSHL |