Table II.
mtDNA mutations in the Chinese family with hearing loss
| Gene | Position | Replacement | Conservationa (H/B/M/X) | Previously reportedb |
|---|---|---|---|---|
| D-loop | 73 | A to G | yes | |
| 152 | T to C | yes | ||
| 217 | T to C | yes | ||
| 263 | A to G | yes | ||
| 16129 | G to A | yes | ||
| 16223 | C to T | yes | ||
| 16362 | T to C | yes | ||
| 16519 | T to C | yes | ||
| 12S rRNA | 750 | A to G | A/A/A/- | yes |
| 1438 | A to G | A/A/A/G | yes | |
| 1555 | A to G | A/A/A/A | yes | |
| 16S rRNA | 1811 | A to G | A/A/T/A | yes |
| 2706 | A to G | A/G/A/A | yes | |
| 3010 | G to A | G/G/A/A | yes | |
| 3206 | C to T | C/A/T/A | yes | |
| ND1 | 3324 | C to T | yes | |
| ND2 | 4769 | A to G | yes | |
| 4883 | C to T | yes | ||
| 5178 | C to A (Leu-Met) | L/T/T/T | yes | |
| COI | 7028 | C to T | yes | |
| 7444 | G to A (Ter-Lys) | yes | ||
| A8 | 8414 | C to T (Leu-Phe) | L/F/M/W | yes |
| 8473 | T to C | yes | ||
| A6 | 8701 | A to G (Thr-Ala) | T/S/L/Q | yes |
| 8860 | A to G (Thr-Ala) | T/A/A/T | yes | |
| COIII | 9540 | T to C | yes | |
| ND3 | 10398 | A to G (Thr-Ala) | T/T/T/A | yes |
| 10400 | C to T | yes | ||
| ND4 | 10873 | T to C | yes | |
| 11719 | G to A | yes | ||
| ND5 | 12705 | C to T | yes | |
| ND6 | 14668 | C to T | yes | |
| CYTB | 14766 | C to T (Thr-Ile) | T/S/T/S | yes |
| 14783 | T to C | yes | ||
| 14979 | T to C (Ile-Thr) | I/I/L/L | yes | |
| 15043 | G to A | yes | ||
| 15301 | G to A | yes | ||
| 15326 | A to G (Thr-Ala) | T/M/I/I | yes |
a
Conservation of amino acid for polypetides or nucleotide for RNAs, in human (H), bovine (B), mouse (M) and Xenopus laevis (X).
b