Variants in the mitochondrial 12S rRNA gene in 164 hearing-impaired pediatric subjects
| Position | Replacement | No. of subjects | Conservation* (H/B/M/X) | Frequency† | Previously reported‡ |
|---|---|---|---|---|---|
| *Conservation of nucleotide for the 12S rRNA in human (H), bovine (B), mouse (M) and Xenopus laevis (X); †Numbers of controls with variant/total controls; ‡See http://www.mitomap.org; §Known and putative pathogenic mutations are indicated in boldface. | |||||
| 709 | G to A | 13 | G/A/A/- | 36/226 | Yes |
| 751 | A to G | 1 | A/G/G/- | 1/226 | No |
| 769 | G to A | 9 | G/A /T/- | 4/226 | Yes |
| 813 | A to G | 1 | A/A/C/T | 1/226 | No |
| 825 | T to A | 1 | T/A/A/A | 2/226 | Yes |
| 827§ | A to G | 1 | A/A/A/A | 0/226 | Yes |
| 921 | T to C | 1 | T/C/C/T | 2/226 | Yes |
| 930 | G to A | 5 | G/G/C/T | 9/226 | Yes |
| 951 | G to A | 1 | G/G/T/A | 1/226 | Yes |
| 961 | T to G | 5 | T/T/A/A | 0/226 | No |
| 1018 | G to A | 10 | G/A/A/G | 2/226 | Yes |
| 1180 | T to G | 1 | T/T/T/T | 0/226 | No |
| 1189 | T to C | 3 | T/T/T/C | 15/226 | Yes |
| 1226 | C to G | 1 | C/C/C/C | 0/226 | No |
| 1442 | G to A | 2 | G/A/A/C | 4/226 | No |
| 1555 | A to G | 1 | A/A/A/A | 0/226 | Yes |
| 1598 | G to A | 1 | G/A/T/T | 3/226 | Yes |