Table 5. Patient and gene wise distribution of mitochondrial DNA variations.
| Patient ID | ND1 | ND2 | CO1 | CO2 | ATPase6 | CO3 | ND3 | ND4L | ND4 | ND5 | CYB |
|---|---|---|---|---|---|---|---|---|---|---|---|
| LHON 1 |
— |
p.I159V, p.L179L |
p.S335S |
— |
— |
p.W16W |
— |
— |
— |
— |
p.F107F |
| LHON 2 |
— |
p.I159V |
— |
— |
— |
— |
p.T114T |
p.L40L |
— |
p.S47S, p.N115N |
— |
| LHON 3 |
— |
— |
— |
— |
p.T53I |
— |
— |
— |
— |
— |
p.A122T, p.L249L |
| LHON 4 |
— |
— |
p.P139P |
— |
— |
— |
— |
— |
— |
p.V132V, p.H4H |
— |
| LHON 5 |
— |
— |
— |
— |
p.W48R |
— |
p.T114T |
— |
p.R340H |
— |
p.H68H |
| LHON 6 |
— |
p.L128Q |
— |
— |
— |
— |
— |
— |
— |
— |
p.L13L |
| LHON 7 |
— |
p.L128Q |
p.Q43Q |
— |
p.T53I |
p.T187T |
— |
— |
— |
— |
|
| LHON 8 |
p.A52T |
— |
p.M277M |
p.L39L, p.G190G |
— |
p.W16W, p.V254I |
p.I60I, p.D66D |
— |
— |
p.L272P |
— |
| LHON 9 |
— |
— |
p.P139P |
— |
p.T53I |
p.V254I |
— |
— |
— |
p.L272P |
— |
| LHON 10 | — | p.I159V | — | — | — | — | p.I60I | — | — | — | p.A122T |
Abbreviations: LHON represents Leber hereditary optic neuropathy, ND1 represents NADH dehydrogenase subunit 1, ND2 represents NADH dehydrogenase subunit 2, ND3 represents NADH dehydrogenase subunit 3, ND4 represents NADH dehydrogenase subunit 4, ND5 represents NADH dehydrogenase subunit 5, CO2 represents cytochrome c oxidase II, CYB represents cytochrome B.