Table II.
mtDNA variants in the Chinese family with LHON
| Gene | position | Replacement | Conservation (H/B/M/X)a | Previously reportedb |
|---|---|---|---|---|
| D-Loop | 73 | A to G | Yes | |
| 195 | T to C | Yes | ||
| 263 | A to G | Yes | ||
| 310 | T to CTC | Yes | ||
| 489 | T-to-C | Yes | ||
| 16223 | C to T | Yes | ||
| 16232 | C to T | Yes | ||
| 16362 | T to C | Yes | ||
| 12S rRNA | 750 | A to G | A/A/A/- | Yes |
| 1438 | A to G | A/A/A/G | Yes | |
| 16S rRNA | 2706 | A to G | A/G/A/A | Yes |
| 3010 | G to A | G/G/A/A | Yes | |
| ND2 | 4769 | A to G | Yes | |
| 4883 | C to T | Yes | ||
| 5178 | C to A (Leu to Met) | L/T/T/T | Yes | |
| CO1 | 7028 | C to T | Yes | |
| A8 | 8414 | C to T(Leu to Phe) | L/F/M/W | Yes |
| A6 | 8701 | A to G (Thr to Ala) | T/S/L/Q | Yes |
| 8860 | A to G (Thr to Ala) | T/A/A/T | Yes | |
| CO3 | 9540 | T to C | Yes | |
| ND3 | 10398 | A to G (Thr to Ala) | T/T/T/A | Yes |
| 10400 | C to T | Yes | ||
| ND4 | 10873 | T to C | Yes | |
| 11696 | G to A (Val to Ile) | V/T/T/M | Yes | |
| 11719 | G to A | Yes | ||
| 11778 | G to A (Arg to His) | R/R/R/R | Yes | |
| 11944 | T to C | Yes | ||
| 12026 | A to G (Ile to Val) | I/I/M/L | Yes | |
| ND5 | 13443 | T to C | Yes | |
| ND6 | 14668 | C to T | Yes | |
| Cyt b | 15043 | G to A | Yes | |
| 15301 | G to A | Yes | ||
| 15326 | A to G (Thr to Ala) | T/M/I/I | Yes | |
| 15529 | C to A | Yes |
a
Conservation of amino acid for polypepides 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.