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