Table 5.
mtDNA Variants in 3 Han Chinese Probands With Coronary Heart Disease
| Gene | Position | Replacement | Conservation (H/B/M/X)* | CRS* | BJH15 | BJH45 | BJH24 | Previously Reported |
|---|---|---|---|---|---|---|---|---|
| D‐loop | 73 | A to G | A | G | G | G | Yes | |
| 103 | G to A | G | A | A | Yes | |||
| 152 | T to C | T | C | Yes | ||||
| 189 | A to G | A | G | Yes | ||||
| 199 | T to C | T | C | Yes | ||||
| 204 | T to C | T | C | Yes | ||||
| 263 | A to G | A | G | G | G | Yes | ||
| 310 | T to CT/CTC/CTCC | T | CTC | CT | TC | Yes | ||
| 315 | C to CC | C | CC | Yes | ||||
| 481 | C to T | C | T | Yes | ||||
| 489 | T to G | T | G | Yes | ||||
| 514 | C to Del | C | Del C | Del C | Del C | Yes | ||
| 515 | A to Del | A | Del A | Del A | Del A | Yes | ||
| 16111 | C to T | C | T | Yes | ||||
| 16140 | T to C | T | C | Yes | ||||
| 16183 | A to C | A | C | Yes | ||||
| 16189 | T to C | T | C | C | C | Yes | ||
| 16193 | C to CC | C | CC | Yes | ||||
| 16223 | C to T | C | T | Yes | ||||
| 16234 | C to T | C | T | Yes | ||||
| 16243 | T to C | T | C | Yes | ||||
| 16344 | C to T | C | T | Yes | ||||
| 16362 | T to C | T | C | Yes | ||||
| 16463 | A to G | A | G | Yes | ||||
| 16519 | T to C | T | C | Yes | ||||
| 16569 | T to C | T | C | Yes | ||||
| 12S rRNA | 709 | G toA | G/G/A/‐ | G | A | A | Yes | |
| 750 | A to G | A/A/A/‐ | A | G | G | Yes | ||
| 1382 | A to C | A/A/A/G | A | C | Yes | |||
| 1438 | A to G | A/A/A/G | A | G | G | G | Yes | |
| 1598 | G toA | G/A/T/T | G | A | A | Yes | ||
| 16S rRNA | 2626 | T to C | T/T/A/G | T | C | Yes | ||
| 2706 | A to G | A/G/A/A | A | G | G | G | Yes | |
| ND1 | 4161 | C to T | C | T | Yes | |||
| ND2 | 4769 | A to G | A | G | G | Yes | ||
| 4883 | C to T | C | T | Yes | ||||
| 4895 | A to G | A | G | Yes | ||||
| 5178 | C to A (Leu to Met) | L/T/T/T | C | A | Yes | |||
| tRNAAla | 5592 | A to G | A/A/A/A | A | G | Yes | ||
| CO1 | 6962 | G to A (Leu to Gly) | L/L/L/L | G | A | Yes | ||
| 7028 | C to T | C | T | T | Yes | |||
| CO2 | 8020 | G to A | G | A | Yes | |||
| NC7 | 8271‐79 | 9‐bp del | C | 9‐bp Del | 9‐bp Del | Yes | ||
| ATP8 | 8414 | C to T (Leu to Phe) | L/F/M/W | C | T | Yes | ||
| ATP6 | 8584 | G to A (Ala to Thr) | A/V/V/I | G | A | A | Yes | |
| 8701 | A to G (Thr to Ala) | T/S/L/Q | A | G | Yes | |||
| 8828 | C to T | C | T | No | ||||
| 8829 | C to T | C | T | Yes | ||||
| 8856 | G to A | G | A | Yes | ||||
| 8860 | A to G (Thr to Ala) | T/A/A/T | A | G | G | G | Yes | |
| 8964 | C to T | C | T | Yes | ||||
| CO3 | 9296 | C to T | C | T | Yes | |||
| 9540 | T to C | T | C | Yes | ||||
| 9824 | T to C | T | C | Yes | ||||
| 9950 | T to C | T | C | Yes | ||||
| ND3 | 10398 | A to G (Thr to Ala) | T/T/T/A | A | G | G | G | Yes |
| 10400 | C to T | C | T | Yes | ||||
| ND4 | 10873 | T to C | T | C | Yes | |||
| 11101 | A to G | A | G | Yes | ||||
| 11719 | G to A | G | A | A | A | Yes | ||
| ND5 | 12361 | A to G | A | G | G | Yes | ||
| 12705 | C to T | C | T | Yes | ||||
| 13959 | C to T | C | T | No | ||||
| ND6 | 14221 | T to C | T | C | Yes | |||
| 14668 | C to T | C | T | Yes | ||||
| Cytb | 14766 | C to T (Thr to Ile) | T/S/T/S | C | T | T | T | Yes |
| 14783 | T to C | T | C | Yes | ||||
| 15043 | G to A | G | A | Yes | ||||
| 15223 | C to T | C | T | T | Yes | |||
| 15301 | G to A | G | A | Yes | ||||
| 15326 | A to G (Thr to Ala) | T/M/I/I | A | G | G | G | Yes | |
| 15508 | C to T | C | T | T | Yes | |||
| 15662 | A to G (Ile to Val) | I/L/F/L | A | G | G | Yes | ||
| 15850 | T to C | T | C | Yes | ||||
| 15851 | A to G (Ile to Val) | I/A/S/M | A | G | G | Yes | ||
| tRNAThr | 15927 | G to A | G/G/G/G | G | A | A | Yes |
CRS indicates Cambridge reference sequence.5
*
Conservation of amino acid for polypepides or nucleotide for RNAs in human (H), bovine (B), mouse (M), and Xenopus laevis (X).
*
See the online mitochondrial genome database http://www.mitomap.org and http://www.genpat.uu.se/mtDB/