mtDNA variants in the five affected subjects with the T961G mutation
| Gene and position | Nucleotide change | Conservation in H/B/M/X* | CRS† | #91 | #221 | #222 | #246 | #256 | Previously reported‡ |
|---|---|---|---|---|---|---|---|---|---|
| *Conservation of amino acid for polypeptide in human (H), bovine (B), mouse (M), and Xenopus lavis (X); †Cambridge reference sequence; ‡See the online mitochondrial genome database MITOMAP. | |||||||||
| Loop | Yes | ||||||||
| 143 | G→A | G | A | A | Yes | ||||
| 150 | C→T | C | T | Yes | |||||
| 152 | T→C | T | Yes | ||||||
| 195 | T→C | T | C | C | C | C | Yes | ||
| 198 | C→T | C | T | Yes | |||||
| 263 | A→G | A | G | G | G | G | G | Yes | |
| 310 | T→TC | T | TC | TC | TC | TC | TC | Yes | |
| 16278 | C→T | C | T | T | Yes | ||||
| 16293 | A→G | A | G | G | G | G | G | Yes | |
| 16311 | T→C | T | C | C | C | C | C | Yes | |
| 12S rRNA | |||||||||
| 750 | A→G | A | G | G | G | G | G | Yes | |
| 961 | T→G | T | G | G | G | G | G | No | |
| 1438 | A→G | A | G | G | G | G | G | Yes | |
| ND2 | |||||||||
| 4769 | A→G | A | G | G | G | Yes | |||
| 4820 | G→A | G | A | No | |||||
| CO1 | |||||||||
| 5902 | T→C | T | C | C | No | ||||
| CO2 | |||||||||
| 7906 | C→T | C | T | T | Yes | ||||
| A8 | |||||||||
| 8447 | A→C (Met to Leu) | M/V/V/V | A | C | C | C | C | C | No |
| A6 | |||||||||
| 8860 | A→G (Thr to Ala) | T/A/A/T | A | C | G | G | G | G | Yes |
| 8898 | C→T | C | T | T | Yes | ||||
| CO3 | |||||||||
| 9911 | C→T | C | T | No | |||||
| ND5 | |||||||||
| 13759 | G→A (Ala to Thr) | A/T/T/I | G | A | A | A | A | Yes | |
| ND6 | |||||||||
| 14587 | A→G | A | G | No | |||||
| Cyto b | |||||||||
| 15217 | G→C | G | C | No | |||||
| 15326 | A→G (Thr to Ala) | T/M/I/I | A | G | G | G | G | G | Yes |