Table 2 of Audo, Mol Vis 2011; 17:1598-1606.
Location in the genomic sequence |
Codon change |
Amino acid change |
Functional consequence |
phenotype |
Publications |
---|---|---|---|---|---|
Exon 1 | c.307C>T | p.Gln103Stop | Protein truncation or NMD affecting PDZ1/PDZ2 domains | Usher type II | [19] |
Exon 2 | c.737delC | p.Pro246HisfsX13 | Protein truncation or NMD affecting PDZ1/PDZ2 domains | Usher type II | Present study |
Intron 2 | c.837+1G>A | Splice mutation in donor site of exon 2 | In-frame skipping of exon 2 resulting in PDZ1 and PDZ2 fusion | Usher type II | [19] |
Exon 10 | c.2332C>T | p.Arg778Stop | Protein truncation or NMD affecting PDZ3 | ar deafness | [21] |
Exon 11 | c.2423delG | p.Gly808AspfsX11 | Protein truncation or NMD affecting PDZ3 | ar deafness | [22] |