Table 2. Eleven novel non-haplogroup-associated mitochondrial DNA variants in the protein-coding regions.
| Location/Effect | Variant | Gene | AA change | CI | Haplogroup | Case no. | Pathogenic |
|---|---|---|---|---|---|---|---|
| mRNA/Synon | m.9732C>T | COX1 | Silent | 0.98 | M7b | 2 | |
| m.9974C>T | COX3 | Silent | 0.98 | G1c | 15 | ||
| m.11407C>T | ND4 | Silent | 1 | M7b | 2 | ||
| m.13821C>T | ND5 | Silent | 0.07 | N9a | 10 | ||
| mRNA/Nonsyn | m.11375A>C | ND4 | p.K206Q | 1 | N9a | 9 | Possibly damaging |
| m.12473C>T | ND5 | p.I46S | 0.47 | N9a, W3a | 9,11 | Possibly damaging | |
| m.12631T>A | ND5 | p.S99T | 0.93 | N9a, W3a | 9,11 | Possibly damaging | |
| m.14457T>C | ND6 | p.M73V | 0.89 | U4b | 29 | Benign | |
| m.14753C>T | CYTB | p.P3S | 0.2 | U2e, U2e | 21,24 | Benign | |
| m.14980C>A | CYTB | p.I78M | 0.4 | G1c | 15 | Benign | |
| m.15765G>A | CYTB | p.G340E | 0.87 | B4d | 4 | Benign |
Abbreviations: AA, amino acid; CI, conservation index; COX1, cytochrome c oxidase I; COX3, cytochrome c oxidase III; CYTB, cytochrome B; Nonsyn, non-synonymous; Synon, synonymous.