Table 4 of Pathak, Mol Vis 2011; 17:1514-1525.


Table 4. Complex 1 variations observed in controls.


Sample
number

Genomic
position

Base
change


Locus
Amino
acid
position

Codon
change
Amino
acid
change
Change
in
protein
1 3591 G>A ND1 95 CTG>CTA Thr>Thr p.T95T
2 3915 G>A ND1 203 GGG>GGA Gly>Gly p.G203G
3 3918 G>A ND1 204 GAG>GAA Glu>Glu p.E204E
4 3933 A>G ND1 209 TCA>TCG Ser>Ser p.S209S
5 3970 C>T ND1 222 CTA>TTA Leu>Leu p.L222L
6 3996 C>T ND1 230 AAC>AAT Asn>Asn p.N230N
7 4093 A>G ND1 263 ACC>GCC Thr>Ala p.T263A
8 4029 C>A ND1 241 ATC>ATA Ile>Ile p.I241I
9 4793 A>G ND2 108 ATA>ATG Met>Met p.M108M
10 4852 T>A ND2 128 CTG>CAG Leu>Gln p.L128Q
11 5186 A>T ND2 239 TGA>TGT Trp>Cys p.W239C
12 5348 C>T ND2 293 TAC>TAT Tyr>Tyr p.Y293Y
13 10310 G>A ND3 84 CTG>CTA Thr>Thr p.T84T
14 11467 A>G ND4 236 TTA>TTG Leu>Leu p.L236L
15 11914 G>A ND4 385 ACG>ACA Thr>Thr p.T385T
16 12007 G>A ND4 416 TGG>TGA Trp>Trp p.W416W
17 12073 C>T ND4 438 TTC>TTT Phe>Phe p.F438F
18 12107 C>T ND4 449 CTC>CTT Thr>Thr p.T449T
19 12133 C>T ND4 458 TCC>TCT Ser>Ser p.S458S
20 13299 A>G ND5 321 CAA>CAG Gln>Gln p.Q321Q
21 12372 G>A ND5 12 CTG>CTA Tyr>Tyr p.T12T
22 12373 A>G ND5 13 ACT>GCT Thr>Ala p.T13A
23 12406 G>A ND5 24 GTT>ATT Val>Ile p.V24I
24 12486 C>T ND5 50 CCC>CCT Pro>Pro p.P50P
25 12498 C>T ND5 54 TTC>TTT Phe>Phe p.F54F
26 12561 G>A ND5 75 CAG>CAA Gln>Gln p.Q75Q
27 13731 A>G ND5 465 GGA>GGG Gly>Gly p.G465G
28 13806 C>T ND5 490 GCC>GCT Ala>Ala p.A490A
29 14058 C>T ND5 574 TCC>TCT Ser>Ser p.S574S