Table 2 of Audo, Mol Vis 2011; 17:1598-1606.


Table 2. Pathogenic variants reported in DFNB31 with respective phenotype.

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]