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