Table 2. Novel SLC26A4 variants found in Chinese hearing loss population.
No. | Variants | Exon | Amino Acid | TM Domain |
Variants in exons | ||||
1 | c.43_44insG | 2 | FS 15,stop at 86 | NH2 |
2 | c.68C>A | 2 | p.S23X | NH2 |
3 | c.87G>C | 2 | p.E29D | NH2 |
4 | c.234_235delC | 3 | FS79,stop at 96 | NH2 |
5 | c.249G>A | 3 | p.W83X | NH2 |
6 | c.279T>A | 3 | p.S93R | NH2 |
7 | c.665G>T | 6 | p.G222V | TM5 |
8 | c.757A>G | 6 | p.I253V | EC LOOP 3 |
9 | c.941C>T | 8 | p.S314L | TM7 |
10 | c.1019_1020delT | 9 | FS 341,stop at 343 | EC LOOP 4 |
11 | c.1124A>G | 9 | p.Y375C | IC LOOP 4 |
12 | c.1240G>A | 10 | p.E414K | EC LOOP 5 |
13 | c.1245C>A | 10 | p.S415R | EC LOOP 5 |
14 | c.1299_1300insC | 11 | FS 434,stop at 467 | TM10 |
15 | c.1327G>C | 11 | p.E443Q | IC LOOP 5 |
16 | c.1409G>A | 12 | p.R470H | EC LOOP6 |
17 | c.1472T>C | 13 | p.I491T | TM12 |
18 | c.1517T>G | 13 | p.L506R | COOH |
19 | c.1595G>T | 14 | p.S532I | COOH |
20 | c.1645_1646insA | 15 | FS 549,stop at 563 | COOH |
21 | c.1678G>A | 15 | p.D560H | COOH |
22 | c.1733_1735delATA | 16 | N579 lost, stop at 780 | COOH |
23 | c.1897G>A | 17 | p.E633K | COOH |
24 | c.1979T>G | 17 | p.L660R | COOH |
25 | c.1983C>A | 17 | p.D661E | COOH |
26 | c.1985G>A | 17 | p.C662Y | COOH |
27 | c.1988G>A | 17 | p.G663E | COOH |
28 | c.1993A>G | 17 | p.I665V | COOH |
29 | c.2044G>T | 18 | p.E682X | COOH |
30 | c.2176A>G | 19 | p.I726V | COOH |
31 | c.2228T>A | 19 | p.L743X | COOH |
32 | c.2326C>G | 21 | p.R776G | COOH |
Variants in spicing site | ||||
33 | IVS4+2T>C (415+2T>C) | intron4 | Spicing site | |
34 | IVS13+5G>A (1544+5G>A) | intron13 | Spicing site | |
Variant in UTR | ||||
35 | 2343+69C>A | 21 | ||
Silent variants | ||||
36 | c.225C>G | 3 | p.L75L | NH2 |
37 | c.678T>C | 6 | p.A226A | TM5 |
38 | c.1905G>A | 17 | p.E635E | COOH |
39 | c.2205T>G | 19 | p.S735S | COOH |
40 | c.2217A>G | 19 | p.Q739Q | COOH |
41 | c.2283A>G | 20 | p.T761T | COOH |
Variants in introns | ||||
42 | intron4-12T>A | intron4 | ||
43 | intron7+(44_46delACA) | intron7 | ||
44 | intron9-(28_35)delTTTGTAGG | intron9 | ||
45 | intron 12-(7_13)insT | intron12 | ||
46 | intron18-(53_56)delCAAA | intron18 | ||
47 | intron19-25T>A | intron19 |
FS:frameshift;X:stop codon;del:delete.