Table 2 mtDNA variants in a Chinese family with CHD
From: Maternally inherited coronary heart disease is associated with a novel mitochondrial tRNA mutation
Gene | Position | Replacement | AA change | Conservation | Previously reported |
|---|---|---|---|---|---|
D-loop | 73 | A-G | Yes | ||
143 | G-A | Yes | |||
150 | C-T | Yes | |||
199 | T-C | Yes | |||
204 | T-C | Yes | |||
207 | G-A | Yes | |||
263 | A-G | Yes | |||
310 | T-C | Yes | |||
489 | T-C | Yes | |||
16,129 | G-A | Yes | |||
16,189 | T-C | Yes | |||
16,223 | C-T | Yes | |||
16,248 | C-T | Yes | |||
16,297 | T-C | Yes | |||
12SrRNA | 750 | A-G | Yes | ||
1438 | A-G | Yes | |||
16SrRNA | 2706 | A-G | Yes | ||
ND1 | 4071 | C-T | Yes | ||
4164 | A-G | Yes | |||
ND2 | 4679 | T-C | Yes | ||
4769 | A-G | Yes | |||
5351 | A-G | Yes | |||
5460 | G-A | Ala331Thr | 5.88% | Yes | |
CO1 | 6455 | C-T | Yes | ||
6680 | T-C | Yes | |||
7028 | C-T | Yes | |||
CO2 | 7684 | T-C | Yes | ||
7853 | G-A | Val90Ile | 29.41% | Yes | |
ATP6 | 8701 | A-G | Thr59Ala | 52.94% | Yes |
CO3 | 9540 | T-C | Yes | ||
9824 | T-C | Yes | |||
ND3 | 10,398 | A-G | Thr114Ala | 41.18% | Yes |
10,400 | C-T | Yes | |||
ND4 | 10,873 | T-C | Yes | ||
11,719 | G-A | Yes | |||
ND5 | 12,405 | C-T | Yes | ||
12,705 | C-T | Yes | |||
12,811 | T-C | Tyr159His | 64.71% | Yes | |
Cytb | 14,766 | C-T | Thr7Ile | 47.06% | Yes |
14,783 | T-C | Yes | |||
14,978 | A-G | Ile78Val | 47.06% | Yes | |
15,043 | G-A | Yes | |||
15,301 | G-A | Yes | |||
15,326 | A-G | Thr194Ala | 52.94% | Yes | |
tRNAThr | 15,910 | C-T | 100% | No |