Table 3 Overview of all WFS1 p.Ser807Arg mutations identified to date.
From: Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness
Number | Nucleotide change | Protein change | Exon | Domain | Origin | Audiometric configuration | References |
|---|---|---|---|---|---|---|---|
1 | c.2419A>C | p.Ser807Arg | Exon 8 | C-terminal domain | United Kingdom | Low-frequency HL | Cryns et al.32 |
2 | c.2419A>C | p.Ser807Arg | Exon 8 | C-terminal domain | South Korea | Low-frequency HL | Choi et al.33 |
3 | c.2421C>G | p.Ser807Arg | Exon 8 | C-terminal domain | China | Low-frequency and flat HL | This study |
