Table 3 of Kumar, Mol Vis 2010; 16:782-792. Table 3 of Kumar, Mol Vis 2010; 16:782-792.
Table 3. Mitochondrial DNA sequence changes in Leber hereditary optic neuropathy patients.
Sample number |
Nucleotide substitution |
Codon Change |
Amino acid change |
Locus |
Base substitution type |
Type of mutation |
Polyphen/ SIFT score |
Pathogenic |
GenBank accession number if novel |
|---|---|---|---|---|---|---|---|---|---|
| 1 | *3460 G>A | GCC>ACC | p.A52T | ND1 | Transition | NS | 1.646/0.00 | YES | NA |
| 2 | 4852 T>A | CTG>CAG | p.L128Q | ND2 | Transversion | NS | 1.951/0.00 | YES | GU197845 |
| 3 | 4944 A>G | ATC>GTC | p.I159V | ND2 | Transition | NS | 0.468/0.29 | NO | NA |
| 4 | 5004 T>C | TTA>CTA | p.L179L | ND2 | Transition | SYN | NA | NA | NA |
| 5 | 6032 G>A | CAG>CAA | p.Q43Q | CO1 | Transition | SYN | NA | NA | NA |
| 6 | 6320 T>C | CCT>CCC | p.P139P | CO1 | Transition | SYN | NA | NA | NA |
| 7 | 6734 G>A | ATG>ATA | p.M277M | CO1 | Transition | SYN | NA | NA | NA |
| 8 | 6908 T>C | TCT>TCC | p.S335S | CO1 | Transition | SYN | NA | NA | NA |
| 9 | 7702 G>A | CTG>CTA | p.L39L | CO2 | Transition | SYN | NA | NA | NA |
| 10 | 8155 G>A | GGG>GGA | p.G190G | CO2 | Transition | SYN | NA | NA | NA |
| 11 | 8668 T>C | TGA>CGA | p.W48R | ATP6 | Transition | NS | 2.734/0.03 | YES | NA |
| 12 | 8684 C>T | ACC>ATC | p.T53I | ATP6 | Transition | NS | 0.219/1.00 | NO | NA |
| 13 | 9254 A>G | TGA>TGG | p.W16W | CO3 | Transition | SYN | NA | NA | NA |
| 14 | 9767 C>T | ACC>ACT | p.T187T | CO3 | Transition | SYN | NA | NA | NA |
| 15 | 9966 G>A | GTC>ATC | p.V254I | CO3 | Transition | NS | 0.293/0.46 | NO | NA |
| 16 | 10238 T>C | ATT>ATC | p.I60I | ND3 | Transition | SYN | NA | NA | NA |
| 17 | 10256 T>C | GAT>GAC | p.D66D | ND3 | Transition | SYN | NA | NA | NA |
| 18 | 10400 C>T | ACC>ACT | p.T114T | ND3 | Transition | SYN | NA | NA | NA |
| 19 | 10589 G>A | CTG>CTA | p.L40L | ND4L | Transition | SYN | NA | NA | NA |
| 20 | *11778 G>A | CGC>CAC | p.R340H | ND4 | Transition | NS | 2.608/0.00 | YES | NA |
| 21 | 12348 C>T | CAC>CAT | p.H4H | ND5 | Transition | SYN | NA | NA | GU197843 |
| 22 | 12477 T>C | AGT>AGC | p.S47S | ND5 | Transition | SYN | NA | NA | NA |
| 23 | 12681 T>C | AAT>AAC | p.N115N | ND5 | Transition | SYN | NA | NA | NA |
| 24 | 12732 T>C | GTT>GTC | p.V132V | ND5 | Transition | SYN | NA | NA | NA |
| 25 | 13151 T>C | CTA>CCA | p.L272P | ND5 | Transition | NS | 0.175/0.21 | No | GU197844 |
| 26 | 14783 T>C | TTA>CTA | p.L13L | CYB | Transition | SYN | NA | NA | NA |
| 27 | 14950 C>T | CAC>CAT | p.H68H | CYB | Transition | SYN | NA | NA | GU197846 |
| 28 | 15067 T>C | TTT>TTC | p.F107F | CYB | Transition | SYN | NA | NA | NA |
| 29 | 15110 G>A | GCA>ACA | p.A122T | CYB | Transition | NS | 0.401/0.65 | NO | NA |
| 30 | 15493 C>T | CTC>CTT | p.L249L | CYB | Transition | SYN | NA | NA | GU197847 |