Table 2 of Roshan, Mol Vis 2012; 18:181-193.


Table 2. List of variations identified in healthy and cataract samples in relation to reference sequence (NC_012920).

Locus Nucleotide change Amino acid change
12S rRNA A1438G ——–
16S rRNA A1811G, A2706G, T2746C, Del3106C ——–
ND1 T3394C, A3397G, A3434G, G3483A, A3511G G3693A, T3847C, C3921A, T4023G, C4171T Y30H, M31V, Y43C, E59E, T69A, L129L, L181L, S205S, T239T, L289L
T1 T4291C ——–
CO1 C6452T, Ins6524A/T, C7028T, T7302C, T7319C L183L, FmsftT207, A375A, L467L, I472I
ATP6 A8679G, A8701G, T8843C, A8860G, A9135G K51K, T59A, I106T, T112A, E203E
CO3 T9540C, A9632C L112L, V142V
TG T10031C ——–
ND3 A10398T, C10400T T114S, T114T
ND4L G10685A A72A
ND4 C10797T, T10873C, A11467G, G11719A, G12007A P13L, P38P, L236L, G320G, W416W
tRNA A12308G ——–
ND5 G12372A, A12999G, C13668T, A13956C, C14109T L12L, A221A, N444N, L540L, F591F
ND6 G12501A M55M
ND5 T12696C, C12705T, A12999G, C13668T, C13943T, A13956C, C14109T Y120Y, I123I, A221A, N444N, T536M, L540L, F591F
ND6 C14155T G173G
Cytb C14766T, T14783C, G14905A, G15043A, T15155C, A15133G, G15301A, A15326G T7I, L13L, M53M, G99G, T123T, M129M, L185L, T194A
D-loop A93G, A153G, T152C, A73G, G66T, Ins65T, Del58T, Del57T, Ins55T, A16206C, C16223T, T16311C, T16445C, T16519C, C16527T ——–