Table 3 SLC26A4 gene mutations identified in the Chinese
Mutation site | Mutation | No. of mutations detected | References |
|---|---|---|---|
2 | M1T | 1 | This study |
3 | S90L | 1 | This study |
3 | K77Ia | 1 | Wu et al. (2005) |
5, 6 | IVS4_IVS6del1.8kb a | 2 | This study |
6 | V233L a | 1 | This study |
6 | S252Pa | 2 | This study; Park et al. (2003) |
7 | G316Xa | 1 | Dai et al. (2005) |
IVS 7 | IVS7-2A>G | 76 | This study; Dai et al. (2005); Hu et al. (2005b); Park et al. (2003); Wu et al. (2005); Yong et al. (2001) |
9 | A372V | 1 | Wu et al. (2005) |
10 | E387Va | 1 | Wu et al. (2005) |
10 | N392Y | 3 | |
10 | S394dela | 1 | Yong et al. (2001) |
10 | R409H | 1 | This study |
10 | T410M | 4 | This study; Wu et al. (2005) |
IVS 10 | IVS10-12T>A a | 1 | This study |
12 | S448Xa | 1 | This study; Hu et al. (2005a) |
12 | S448La | 2 | This study; Wu et al. (2005) |
IVS 13 | IVS13+9C>Ga | 1 | Yong et al. (2001) |
IVS 15 | IVS15+5G>A | 2 | Yang et al. (2005) |
IVS 16 | IVS16-6G>Aa | 1 | Yang et al. (2005) |
17 | V659L a | 1 | This study |
19 | T721M | 2 | This study; Wu et al. (2005) |
19 | H723R | 3 | This study; Yong et al. (2001) |
