Table 2.
mtDNA variants in two Chinese pedigrees, GFX and WZD1
| Gene | position | replacement | Conservation | GFX | WZD1b | Previously reportedc |
|---|---|---|---|---|---|---|
| (H/B/M/X)a | ||||||
| D-loop | 73 | A >G | G | G | yes | |
| 150 | C > T | T | T | yes | ||
| 195 | T > C | C | C | yes | ||
| 263 | A > G | G | G | yes | ||
| 310 | T > CTC | CTC | yes | |||
| 316 | InsetC | insetC | no | |||
| 392 | T > C | C | no | |||
| 16140 | T > C | C | Yes | |||
| 16182 | A > C | C | Yes | |||
| 16183 | A > C | C | C | Yes | ||
| 16189 | T > C | C | C | Yes | ||
| 16217 | T > C | C | C | Yes | ||
| 16274 | G > A | A | Yes | |||
| 16305 | A > T | T | Yes | |||
| 16335 | A > G | G | Yes | |||
| 16362 | T > C | C | Yes | |||
| 16519 | T > C | C | yes | |||
| 16545 | T > C | C | no | |||
| 12SrRNA | 750 | A > G | A/A/A/> | G | yes | |
| 1119 | T > C | T/T/T/C | C | C | Yes | |
| 1438 | A > G | A/A/A/G | G | G | Yes | |
| 1555 | A > G | A/A/A/A | G | G | Yes | |
| 16SrRNA | 2706 | A > G | A/G/A/A | G | G | Yes |
| 3107 | delC | delC | Yes | |||
| ND1 | 3497 | C > T | A/A/L/S | T | T | Yes |
| 3571 | C > T | L/L/L/L | T | Yes | ||
| 3738 | C > T | T | Yes | |||
| ND2 | 4769 | A > G | G | G | Yes | |
| 5441 | A > G | G | Yes | |||
| CO1 | 7028 | C > T | T | T | Yes | |
| CO2 | 8200 | T > C | C | Yes | ||
| 8257 | A > G | G | Yes | |||
| NC7 | 8271 > 79 | 9 > bpdel | 9 > bpdel | Yes | ||
| 8281 > 89 | 9 > bpdel | 9 > bpdel | No | |||
| ATP6 | 8860 | A > G(Thr to Ala) | T/A/A/T | G | G | Yes |
| CO3 | 9827 | C > T | T | Yes | ||
| ND3 | 10398 | A > G(Thr to Ala) | T/T/T/A | G | Yes | |
| ND4 | 11719 | G > A | A | A | Yes | |
| ND5 | 13629 | A > G | G | No | ||
| CYB | 14766 | C > T | T | Yes | ||
| 15301 | G > A | A | Yes | |||
| 15326 | A > G(Thr to Ala) | T/M/I/I | G | G | Yes | |
| 15346 | G > A(His to Asp) | H/H/H/H | A | A | Yes | |
| tRNAThr | 15941 | T > C | C | Yes | ||
A Conservation of variant in human(H), bovine(B), mouse(M) and xenopus laevis(X)
b X.Tang et al(2007)[14]