Table 1.
All mtDNA changes in patient's complete mtDNA sequence (GenBank ID JQ408982) compared to the Cambridge Reference Sequence (rCRS, GenBank ID NC_012920). All changes, except m.3890G>A, are reported as neutral [39].
| Nucleotide differences relative to rCRS | Gene | Amino-acid change |
|---|---|---|
| m.263A>G | MT-DLOOP | – |
| m.315insC | MT-DLOOP | – |
| m.750A>G | MT-RNR1 | – |
| m.961T>C | MT-RNR1 | – |
| m.1438 A>G | MT-RNR1 | – |
| m.3010G>A | MT-RNR2 | – |
| m.3890G>A | MT-ND1 | p.R195Q |
| m.4769A>G | MT-ND2 | Synonymous |
| m.7765A>G | MT-CO2 | Synonymous |
| m.8860A>G | MT-ATP6 | p.Y112A |
| m.13836A>G | MT-ND5 | Synonymous |
| m.15326A>G | MT-CYB | p.Y194A |
| m.16519T>C | MT-DLOOP | – |