Nucleotide position and changes | Amino acid changes in ND6 | Phenotype | References |
---|---|---|---|
14258G → A | P139L | LHON | 20 |
14279G → A | S132L | LHON | 21 |
14325 T → C | N117D | LHON | 22 |
14453G → A | A74V | MELAS | 8 |
14459G → A | A72V | LHON /dystonia | 23 |
14482C → A | M64I | LHON | 24 |
14482C → G | M64I | LHON | 25 |
14484 T → C | M64V | LHON | 26 |
14487 T → C | M63V | Leigh disease | 27 |
14495A → G | L60S | LHON | 28 |
14498 T → C | Y59C | LHON | 29 |
14502 T → C | I58V | LHON | 30 |
14568C → T | G36S | LHON | 31 |
14582A → G | V31A | LHON | 20 |
14596A → T | I26M | LHON /dystonia | 32 |
14600G → A | P25L | Leigh disease | 33 |