Table 2 of
Kumar, Mol Vis 2012; 18:2687-2699. Table 2 of
Kumar, Mol Vis 2012; 18:2687-2699.
Table 2. Mitochondrial DNA sequence changes in LHON patients.
| S. No. | Nucleotide substitution | Codon change | Amino acid change | Locus | Type of mutation | Polyphen/SIFT score | Pathogenicity | Reported/ Novel |
|---|---|---|---|---|---|---|---|---|
| 1. | C3507G | ACC>ACG | p.T67T | ND1 | SYN | NA | NA | mitomap |
| 2. | C3741T | ACC>ACT | p.T145T | ND1 | SYN | NA | NA | mitomap |
| 3. | C3970T | CTA>TTA | p.L222L | ND1 | SYN | NA | NA | rs28357973 |
| 4. | G4113A | CTG>CTA | p.L269L | ND1 | SYN | NA | NA | mitomap |
| 5. | *G3460A | GCC>ACC | p.A52T | ND1 | NS | 1.646/0.00 | YES | mitomap |
| 6. | T4703C | AAT>AAC | p.N78N | ND2 | SYN | NA | NA | mitomap |
| 7. | A4916G | CTA>CTG | p.L149L | ND2 | SYN | NA | NA | mitomap |
| 8. | A4944G | ATC>GTC | p.I159V | ND2 | NS | 0.468/0.29 | No | mitomap |
| 9. | T5004C | TTA>CTA | p.L179L | ND2 | SYN | NA | NA | rs41419549 |
| 10. | C6290T | TAC>TAT | p.Y129Y | CO1 | SYN | NA | NA | mitomap |
| 11. | G6305A | GGG>GGA | p.G134G | CO1 | SYN | NA | NA | mtDB |
| 12. | T6320C | CCT>CCC | p.P139P | CO1 | SYN | NA | NA | mtDB |
| 13. | G6734A | ATG>ATA | p.M277M | CO1 | SYN | NA | NA | rs41413745 |
| 14. | T6908C | TCT>TCC | p.S335S | CO1 | SYN | NA | NA | mtDB |
| 15. | A7843G | ATA>ATG | p.M86M | CO2 | SYN | NA | NA | mitomap |
| 16. | T7961C | TTA>CTA | p.L126L | CO2 | SYN | NA | NA | mitomap |
| 17. | G8701A | GCC>ACC | p.A59T | ATP6 | NS | 0.430/0.60 | NO | rs2000975 |
| 18. | G8865A | GTG>GTA | p.V113V | ATP6 | SYN | NA | NA | mitomap |
| 19. | G9123A | CTG>CTA | p.L199L | ATP6 | SYN | NA | NA | rs28358270 |
| 20. | T9068C | ATA>ACA | p.M181T | ATP6 | NS | 1.579/0.00 | YES | mitomap |
| 21. | C9540T | CTA>TTA | p.L112L | CO3 | SYN | NA | NA | rs2248727 |
| 22. | G9966A | GTC>ATC | p.V254I | CO3 | NS | 0.293/0.46 | NO | mitomap |
| 23. | T10238C | ATT>ATC | p.I60I | ND3 | SYN | NA | NA | rs28358275 |
| 24. | G10310A | CTG>CTA | p.T84T | ND3 | SYN | NA | NA | rs41467651 |
| 25. | C10400T | ACC>ACT | p.T114T | ND3 | SYN | NA | NA | rs28358278 |
| 26. | C10181T | TTC>TTT | p.F41F | ND3 | SYN | NA | NA | mtDB |
| 27. | G10589A | CTG>CTA | p.L40L | ND4L | SYN | NA | NA | rs2853487 |
| 28. | *G11778A | CGC>CAC | p.R340H | ND4 | NS | 2.608/0.00 | YES | mitomap |
| 29. | C12348T | CAC>CAT | p.H4H | ND5 | SYN | NA | NA | Novel |
| 30. | T12477C | AGT>AGC | p.S47S | ND5 | SYN | NA | NA | rs28608480 |
| 31. | A12810G | TGA>TGG | p.W158W | ND5 | SYN | NA | NA | rs28359174 |
| 32. | A12849T | GCA>GCT | p.A171A | ND5 | SYN | NA | NA | Novel |
| 33. | T12879C | GGT>GGC | p.G181G | ND5 | SYN | NA | NA | mitomap |
| 34. | C12906T | ATC>ATT | p.I190I | ND5 | SYN | NA | NA | Novel |
| 35. | T13020C | GGT>GGC | p.G228G | ND5 | SYN | NA | NA | rs75577869 |
| 36. | T13151C | CTA>CCA | p.L272P | ND5 | NS | 0.175/0.21 | NO | Novel |
| 37. | T13281C | GTT>GTC | p.V315V | ND5 | SYN | NA | NA | mtDB |
| 38. | *T14484C | ATG>ACG | p.M64V | ND6 | NS | 2.504/0.01 | YES | mitomap |
| 39. | T14783C | TTA>CTA | p.L13L | CYB | SYN | NA | NA | mitomap |
| 40. | C14950T | CAC>CAT | p.H68H | CYB | SYN | NA | NA | Novel |
| 41. | G15043A | GGG>GGA | p.G99G | CYB | SYN | NA | NA | rs28357684 |
| 42. | A15061G | GGA>GGG | p.G105G | CYB | SYN | NA | NA | mitomap |
| 43. | T15067C | TTT>TTC | p.F107F | CYB | SYN | NA | NA | mitomap |
| 44. | T15097C | ATT>ATC | p.I117I | CYB | SYN | NA | NA | mtDB |
| 45. | T15287C | TTT>CTT | p.F181L | CYB | NS | 0.967/0.01 | – | mitomap |
| 46. | G15110A | GCA>ACA | p.A122T | CYB | NS | 0.401/0.65 | NO | rs28357685 |
| 47. | C15493T | CTC>CTT | p.L249L | CYB | SYN | NA | NA | mitomap |