Table 2.
MtDNA variants and amino acid position within the protein; (*) asterisk indicates the translational stop codon; (-) dash indicates frameshift variants. LHON: Leber's hereditary optic neuropathy; MELAS: mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; LS: Leigh syndrome; SNHL: mitochondrial non-syndromic sensorineural hearing loss. MITOMAP:
human mitochondrial genome database (https://www.mitomap.org/MITOMAP); Helix Mitochondrial database (https://www.helix.com/pages/mitochondrial-variant-database).
| Nucleotide change | Aa change | MAF % (n. variants/total samples) | Source(s) | Notes |
|---|---|---|---|---|
| MT-ND1 | ||||
| m.3368T > C | p.M21T | Mitomap: 0.035 (20/56895) | dbSNP: rs1603218920 | |
| Helix: 0.037 (72/195983) | ||||
| m.3376G > A | p.E24K | Mitomap: 0.000 (0/56895) | dbSNP: rs397515612 | associated diseases: LHON, MELAS |
| m.3377A > G | p.E24G | not available | COSMIC: COSV104670687 | malignant melanoma |
| m.3380G > A | p.R25Q | Mitomap: 0.005 (3/56895) | dbSNP: rs1603218926 | endometrioid carcinoma |
| COSMIC: COSV62293468 | ClinVar-associated phenotypes: MELAS | |||
| m.3388C > A | p.L28M | Mitomap: 0.046 (26/56895) | dbSNP: rs387906730 | ClinVar-associated phenotypes: LS, SNHL |
| Helix: 0.117 (230/195983) | Haplogroups: U5a1a1i, H2a2b1a1, H2a2b1a, R8 | |||
| m.3407G > A | p.R34H | Mitomap: 0.002 (1/56895) | dbSNP: rs1603218938 | |
| m.3918G > C | p.E204D | Mitomap: 0.000 (0/56895) | dbSNP: rs28357972 | |
| Helix: 0.001 (1/195983) | ||||
| m.4126C > A | p.R274* | not available | dbSNP: rs28461785 | |