Table 1.
mtDNA variants in four Han Chinese families with hearing loss
| Gene | Position | Replacement | Conservation (H/B/M/X)a | CRS | WZD31 | WZD32 | WZD33 | WZD34 | Previously reportedb |
|---|---|---|---|---|---|---|---|---|---|
| D-Loop | 73 | A to G | A | G | G | G | G | Yes | |
| 103 | G to A | G | A | A | A | Yes | |||
| 131 | T to C | T | C | Yes | |||||
| 200 | A to G | A | G | Yes | |||||
| 204 | T to C | A | C | C | Yes | ||||
| 207 | G to A | G | A | Yes | |||||
| 263 | A to G | A | G | G | G | G | Yes | ||
| 297 | A to C | A | C | No | |||||
| 303 | C to CC | C | CC | Yes | |||||
| 310 | T to CTC/TC | T | TC | TC | CTC | TC | Yes | ||
| 481 | C to T | C | T | No | |||||
| 514 | C Del | C | C del | Yes | |||||
| 515 | A Del | A | A del | Yes | |||||
| 523 | A Del | A | A del | A del | A del | Yes | |||
| 524 | C Del | C | C del | C del | C del | Yes | |||
| 16111 | C to T | C | T | T | Yes | ||||
| 16140 | T to C | T | C | C | C | C | Yes | ||
| 16182 | A to C | A | C | Yes | |||||
| 16183 | A to C | A | C | C | C | C | Yes | ||
| 16189 | T to CC/C | T | CC | CC | C | CC | Yes | ||
| 16194 | A to C | A | C | Yes | |||||
| 16195 | T to A | T | A | Yes | |||||
| 16196 | G to TG | G | TG | Yes | |||||
| 16234 | C to T | C | T | T | Yes | ||||
| 16243 | T to C | T | C | C | C | C | Yes | ||
| 16291 | C to T | C | T | Yes | |||||
| 16344 | C to T | C | T | Yes | |||||
| 16355 | C to T | C | T | Yes | |||||
| 16463 | A to G | A | G | G | Yes | ||||
| 16519 | T to C | T | C | C | C | Yes | |||
| 12S rRNA | 709 | G to A | G/G/A/ | G | A | A | A | Yes | |
| 750 | A to G | A/G/G/ | A | G | Yes | ||||
| 961 | C to CC | T/A/T/A | C | CC | CC | Yes | |||
| 1438 | A to G | A/A/A/G | A | G | G | G | G | Yes | |
| 1555 | A to G | A/A/A/A | A | G | G | G | G | Yes | |
| 1598 | G to A | G/A/T/T | G | A | A | A | A | Yes | |
| 16S rRNA | 2706 | A to G | A/G/A/A | A | G | G | G | G | Yes |
| 3107 | C Del | C/T/T/T | C | C Del | C Del | C Del | Yes | ||
| ND1 | 4161 | C to T | C | T | No | ||||
| ND2 | 4769 | A to G | A | G | G | G | G | Yes | |
| 4895 | A to G | A | G | G | Yes | ||||
| 4985 | G to A | G | A | A | Yes | ||||
| NC4 | 5744 | G to A | G | A | No | ||||
| CO1 | 6446 | G to A | G | A | Yes | ||||
| 7028 | C to T | C | T | T | T | Yes | |||
| 7269 | G to A (Val to Met) | V/M/M/I | G | A | No | ||||
| NC7 | 8271-79 | 9-bp del | Del | Del | Del | Yes | |||
| ATPase6 | 8584 | G to A (Ala to Thr) | A/V/V/I | G | A | A | A | A | Yes |
| 8784 | A to G | A | G | Yes | |||||
| 8829 | C to T | C | T | T | T | Yes | |||
| 8860 | A to G (Thr to Ala) | T/A/A/T | A | G | G | G | Yes | ||
| CO3 | 9947 | G to A | G | A | Yes | ||||
| 9950 | T to C | T | C | C | C | Yes | |||
| ND3 | 10398 | A to G (Thr to Ala) | T/T/T/A | A | G | G | G | G | Yes |
| ND4 | 11101 | A to G | A | G | No | ||||
| 11335 | T to C | T | C | C | Yes | ||||
| 11437 | T to C | T | C | No | |||||
| 11719 | G to A | G | A | A | A | A | Yes | ||
| 11893 | A to G | A | G | Yes | |||||
| 12084 | C to T (Ser to Phe) | S/L/I/I | C | T | Yes | ||||
| ND5 | 12361 | A to G (Thr to Ala) | T/S/I/M | A | G | G | G | G | Yes |
| 14148 | A to G | A | G | No | |||||
| ND6 | 14560 | G to A | G | A | A | No | |||
| Cyt b | 14766 | T to C (Thr to Ile) | T/S/I/S | T | C | Yes | |||
| 15223 | C to T | C | T | T | T | T | No | ||
| 15326 | A to G (Thr to Ala) | T/M/I/I | A | G | G | G | G | Yes | |
| 15508 | C to T | C | T | T | T | T | Yes | ||
| 15662 | A to G (Ile to Val) | I/L/F/L | A | G | G | G | G | Yes | |
| 15734 | G to A | G | A | Yes | |||||
| 15850 | T to C | T | C | C | Yes | ||||
| 15851 | A to G (Ile to Val) | I/A/S/M | A | G | G | G | Yes | ||
| tRNA | 15927 | G to A | G/G/G/G | G | A | A | A | A | Yes |
CRS, consensus Cambridge sequence; mtDNA, mitochondrial DNA.
a
Conservation of amino acid for polypeptides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X).
b
See the online mitochondrial genome database http://www.mitomap.org