Table 1.
mtDNA mutations in three Chinese families with hearing impairment
| Gene | position | Replacement | Conservation (H/B/M/X)a | CRSb | WZD101 | WZD102 | WZD103 | Previously reportedc,d |
|---|---|---|---|---|---|---|---|---|
| D-Loop | 73 | A to G | A | G | G | G | Yes | |
| 150 | C to T | C | T | Yes | ||||
| 249 | del A | A | del A | del A | Yes | |||
| 263 | A to G | A | G | G | G | Yes | ||
| 310 | T-CT, CTC or TC | T | TC | TC | CTC | Yes | ||
| 489 | T to C | T | C | Yes | ||||
| 514 | del C | C | del C | Yes | ||||
| 515 | del A | A | del A | Yes | ||||
| 523 | del A | A | del A | del A | Yes | |||
| 524 | del C | C | del C | del C | No | |||
| 16092 | T to C | T | C | Yes | ||||
| 16129 | G to A | G | A | A | Yes | |||
| 16161 | T to C | T | C | Yes | ||||
| 16162 | A to G | A | G | G | Yes | |||
| 16164 | A to G | A | G | Yes | ||||
| 16172 | T to C | T | C | C | Yes | |||
| 16182 | A to C | A | C | Yes | ||||
| 16183 | A to C | A | C | Yes | ||||
| 16189 | T to C | T | C | Yes | ||||
| 16223 | C to T | C | T | Yes | ||||
| 16266 | C to T | C | T | Yes | ||||
| 16304 | T to C | T | C | C | Yes | |||
| 16362 | T to C | T | C | Yes | ||||
| 16519 | T to C | T | C | C | Yes | |||
| 12S rRNA | 752 | C to T | C/C/A/- | C | T | Yes | ||
| 1107 | T to C | T | C | Yes | ||||
| 1438 | A to G | A/A/A/G | A | G | G | G | Yes | |
| 1494 | C to T | C/C/C/C | C | T | T | T | Yes | |
| 16S rRNA | 2706 | A to G | A/G/A/A | A | G | G | G | Yes |
| ND1 | 3970 | C to T | C | T | T | Yes | ||
| 4086 | C to T | C | T | T | Yes | |||
| ND2 | 4769 | A to G | A | G | G | G | Yes | |
| 4883 | C to T | C | T | Yes | ||||
| 4985 | G to A | G | A | A | A | Yes | ||
| 5178 | C to T (Leu to Met) | L/T/T/T | C | T | Yes | |||
| 5301 | A to G (Ile to Val) | I/I/M/L | A | G | Yes | |||
| CO1 | 6392 | T to C | T | C | C | Yes | ||
| 6962 | G to A | G | A | A | Yes | |||
| 7028 | C to T | C | T | T | T | Yes | ||
| ATPase6 | 8701 | A to G (Thr to Ala) | T/S/L/Q | A | G | Yes | ||
| 8860 | A to G (Thr to Ala) | T/A/A/T | A | G | G | G | Yes | |
| 9053 | G to A (Ser to Asp) | S/G/G/T | G | A | A | Yes | ||
| 9180 | A to G | A | G | Yes | ||||
| CO3 | 9540 | T to C | T | C | Yes | |||
| 9548 | G to A | G | A | A | Yes | |||
| ND3 | 10310 | G to A | G | A | A | Yes | ||
| 10397 | A to G | A | G | Yes | ||||
| 10398 | A to G (Thr to Ala) | T/T/T/A | A | G | Yes | |||
| 10400 | C to T | C | T | Yes | ||||
| ND4L | 10609 | T to C (Met to Thr) | M/T/T/T | T | C | C | Yes | |
| ND4 | 10873 | T to C | T | C | Yes | |||
| 11176 | G to A | G | A | A | yes | |||
| 11719 | G to A | G | A | A | A | Yes | ||
| 11944 | T to C | T | C | Yes | ||||
| 12026 | A to G (Ile to Val) | I/I/M/L | A | G | Yes | |||
| ND5 | 12406 | G to A (Val to Ile) | V/F/S/F | G | A | A | Yes | |
| 12561 | G to A | G | A | A | No | |||
| 12705 | C to T | C | T | Yes | ||||
| 12882 | C to T | C | T | Yes | ||||
| 13759 | G to A (Ala to Thr) | A/T/T/T | G | A | A | Yes | ||
| 13928 | G to C (Ser to Thr) | S/T/S/T | G | C | C | Yes | ||
| Cyt b | 14783 | T to C | T | C | Yes | |||
| 15043 | G to A | G | A | Yes | ||||
| 15301 | G to A | G | A | Yes | ||||
| 15326 | A to G (Thr to Ala) | T/M/I/I | A | G | G | G | Yes | |
| 15749 | C to A | C | A | No | ||||
| 15884 | G to A (Aa to Thr) | A/W/Y/W | G | A | A | Yes | ||
| tRNAThr | 15891 | C to G | C/T/T/C | C | G | Yes |
a
Conservation of amino acid for polypepides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X);
b
CRS: Cambridge reference sequence (29);
c
See the online mitochondrial genome database http://www.mitomap.org.