Gene | Mutation | Homo/heteroplasmy | prelingual HL (N = 54) | Late-onset HL (N = 80) | Controls (N = 137) | freq in controls (%) | Japanese (N = 672)a | freq in Japanese (%) | conservation indexb | Previous reportc | mtDBcM (N = 2704) | freq in mtDB (%) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
12S rRNA | 663A > G | homoplasmy | 3 | 5 | 2 | 1.5 | 48 | 7.1 | 29/51 | yes | 86 | 3.2 |
 | 709G > A | homoplasmy | 7 | 7 | 12 | 8.8 | 125 | 18.6 | 19/51 | yes | 444 | 16.4 |
 | 750A > G | homoplasmy | 54 | 80 | 137 | 100.0 | no data | no data | 49/51 | yes | 2682 | 96.7 |
 | 752C > T | homoplasmy | 0 | 0 | 9 | 6.6 | 17 | 2.5 | 44/51 | yes | 20 | 0.7 |
 | 827A > G | homoplasmy | 4 | 3 | 3 | 2.2 | 25 | 3.7 | 48/51 | yes | 54 | 2.0 |
 | 904C > T | homoplasmy | 1 | 0 | 0 | 0.0 | 0 | 0.0 | 48/51 | none | 0 | 0.0 |
 | 961insC | homoplasmy | 1 | 0 | 3 | 2.2 | 1 | 0.1 | 9/51 | yes | 37 | 2.0 |
 | 961delT+ Cn | both | 0 | 1 | 4(2)d | 2.9 | no data | no data | 9/51 | yes | no data | no data |
 | 1005T > C | both | 1 | 1(1) | 1 | 0.7 | 1 | 0.1 | 33/51 | yes | 7 | 0.3 |
 | 1009C > T | homoplasmy | 0 | 0 | 1 | 0.7 | 1 | 0.1 | 9/51 | yes | 2 | 0.1 |
 | 1041A > G | homoplasmy | 0 | 4 | 5 | 3.6 | 11 | 1.6 | 26/51 | yes | 14 | 0.5 |
 | 1107T > C | homoplasmy | 0 | 0 | 6 | 4.4 | 29 | 4.3 | 30/51 | yes | 34 | 1.26 |
 | 1119T > C | homoplasmy | 1 | 2 | 7 | 5.1 | 20 | 3.0 | 20/51 | yes | 26 | 1.0 |
 | 1382A > C | homoplasmy | 0 | 1 | 11 | 8.0 | 62 | 9.2 | 38/51 | yes | 65 | 2.4 |
 | 1438A > G | homoplasmy | 54 | 80 | 137 | 100.0 | 662 | 98.5 | 46/51 | yes | 2620 | 96.9 |
tRNA Ser(UCN) | 7501T > A | homoplasmy | 0 | 3 | 0 | 0.0 | 1 | 0.1 | 15/51 | yes | 1 | 0.0 |