Table 2 of
Sundaramurthy, Mol Vis 2021; 27:718-724. Table 2 of
Sundaramurthy, Mol Vis 2021; 27:718-724.
Table 2. Distribution of Nonsynonymous coding region variants in LHON cases.
| S.No | Familly ID | Nucleotide substitution | Protein change | Codon change | Amino acid change | Novel/Reported | Locus change | Polyphen-2 score | SIFT score | Disease associated |
|---|---|---|---|---|---|---|---|---|---|---|
| 1. | LH-11, LH-24,LH-37 | m.3316G>A | p.Ala4Thr | GCC>ACC | Ala>Thr | Reported | ND1 | 0 (Benign | 0.18 (Tolerated) | LHON |
| 2. | LH-1 | m.3644T>C | p.Val113Ala | TAC>CAC | Val>Ala | Reported | ND1 | 0.111 (Benign) | 0.02 (Deleterious) | BD associated |
| 3. | LH-18 | m.11447G>A | p.Val230Met | GTG>ATG | Val>Met | Reported | ND4 | 0.009 (Benign) | 0(Deleterious) | Nil |