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. 2011 Jun 8;17:1514–1525.

Table 3. Complex 1variations observed in KC patients.

Sample number Genomic position Base change Gene/ location Amino acid position Codon change Amino acid change Change in protein Total no. of patients with nt changes GeneBank accession number if novel
1
2706
G>A
16rRNA
 
 
 
 
1
 
2
2887
T>C
16rRNA
 
 
 
 
1
 
3
3918
G>A
ND1
204
GAG>GAA
Glu>Glu
p.E204E
1
 
4
3921
T>C
ND1
205
TCT>TCT
Ser>Ser
p.S205S
1
 
5
4216
T>C
ND1
304
TAT>CAT
Tyr>His
p.Y304H
3
 
6
4454
T>C
tRNA met
 
 
 
 
1
 
7
4682
C>A
ND2
71
CTA>ATA
Leu>Ile
p.L71I
1
Yes
8
4688
T>C
ND2
73
GCT>GCC
Ala>Ala
p.A73A
1
 
9
4696
T>C
ND2
76
TTC>TCC
Phe>Ser
p.F76S
1
Yes
10
4715
A>G
ND2
100
ATG>ATA
Met>Met
p.M100M
1
 
11
4833
A>G
ND2
122
ACC>GCC
Thr>Ala
p.T122A
1
 
12
4917
A>G
ND2
150
AAC>GAC
Asn>Asp
p.N150D
1
 
13
5046
G>A
ND2
193
GTT>ATT
Val>Ile
p.V193I
1
 
14
5108
T>C
ND2
213
ACT>ACC
Thr>Thr
p.T213T
1
 
15
5300
T>T, Del CA
ND2
277
Frame shift
p.Ile277His fs X11
p.I287X
1
Yes
16
5348
C>T
ND2
293
TAT>TAC
Tyr>Tyr
p.Y293Y
1
 
17
5351
A>G
ND2
294
TTA>TTG
Leu>Leu
p.L294L
1
 
18
5360
C>T
ND2
297
ATC>ATT
Ile>Ile
p.I297I
1
 
19
5460
G>A
ND2
331
GCC>ACC
Ala>Thr
p.A331T
1
 
20
5580
C>T
NC
 
 
 
 
20
 
21
5585
G>A
NC
 
 
 
 
20
 
22
5601
C>T
tRNA Ala
 
 
 
 
2
 
23
5790
C>A
OL
 
 
 
 
1
 
24
5899
InsC
NC
 
 
 
 
1
Yes
25
5900
InsC
NC
 
 
 
 
 
Yes
26
10084
T>C
ND3
9
ATC>ACC
Ile>Thr
p.I9T
1
 
27
10142
C>T
ND3
18
AAC>AAT
Asn>Asn
p.N18N
1
 
28
10253
T>C
ND3
65
TTT>TTC
Phe>Phe
p.F65F
1
 
29
10304
T>C
ND3
82
ACT>ACC
Thr>Thr
p.T82T
1
Yes
30
10373
G>A
ND3
105
GAG>GAA
Glu>Glu
p.E105E
1
 
31
10398
G-A
ND3
114
GCC-ACC
Ala>Thr
p. A 114 T
8
 
32
10400
C-T
ND3
114
GCC-GCT
Ala-Ala
p. A114 A
9
 
33
10411
A>G
tRNA Arg
 
 
 
 
 
 
34
10463
T>C
tRNA Arg
 
 
 
 
1
 
35
10685
G>A
ND4L
72
 
Ala>Ala
p.A72A
1
 
36
10631
C>T
ND4L
54
 
Leu>Leu
p.L54L
1
 
38
10819
A>G
ND4
20
CTG>CTA
Lys-Lys
p.K20K
20
 
39
10873
C-T
ND 4
38
CCC-CCT
Pro-Pro
P38P
20
 
40
10951
C>T
ND4
64
CCC>CCT
Pro>Pro
p.P64P
1
Yes
41
11017
C-T
ND 4
86
AGC-AGT
Ser-Ser
S86S
20
 
42
11251
A>G
ND4
164
CTA>CTG
Leu>Leu
p.L164L
1
 
43
11273
G>C, Del G
ND4
172
Frame shift
p.gly172AlafsX2
p.L174X
1
Yes
44
11437
T>C
ND4
226
GCT>GCC
Ala>Ala
p.A226A
1
 
45
11467
A>G
ND4
236
TTA>TTG
Leu>Leu
p.L236L
3
 
46
11673
C>T
ND4
305
ACC>ACT
Thr>Thr
p.T305T
1
 
47
11722
C>T
ND4
321
CTC>CTT
Leu>leu
p.L305L
20
 
48
11902
G>C
ND4
381
GTG>GTC
Val>Val
p.V381V
1
 
49
11914
G>A
ND4
385
ACG>ACA
Thr>Thr
p.T385T
1
 
50
11947
A>G
ND4
396
ACA>ACG
Thr>Thr
p.T396T
1
 
51
11969
G>A
ND4
404
GCC>ACC
Ala>thr
p.A404T
3
 
52
12007
G>A
ND 4
416
TGG-TGA
Tryp-Tryp
p. W416 W
9
 
53
12234
G>A
tRNA Ser
 
 
 
 
1
 
54
12236
G>A
tRNA Ser
 
 
 
 
1
 
55
12330
A>G
tRNA Ser
 
 
 
 
3
Yes
56
12308
A>G
tRNA Leu
 
 
 
 
5
 
37
12330
A>G
tRNA Leu
 
 
 
 
 
 
57
12361
A>G
ND5
9
ACC>AAA
Thr>Ala
p.T9A
1
 
58
12372
G>A
ND5
12
CTG>CTA
Leu>Leu
p.L12L
5
 
59
12414
T>C
ND5
26
CCT>CCC
Pro>Pro
p.P26P
1
 
60
12426
C>A
ND5
30
AAC>AAA
Asp>Lys
p.D30L
1
 
61
12561
G>A
ND5
75
CAG>CAA
Gln>Gln
p.Q75Q
1
 
62
12633
C>A
ND5
99
TCC>TCA
Ser>Ser
p.S99S
2
 
63
12624
T>C
ND5
96
GTT>GTC
Val>Val
p.V96V
1
 
64
12672
A>G
ND5
112
CCA>CCG
Pro>Pro
p.P112P
2
 
65
12654
A>G
ND5
106
TGA>TGG
Trp>Trp
p.W106W
1
Yes
66
12705
T-C
ND5
123
ATT-ATC
Ile-Ile
p. I 123 I
11
 
67
12850
G-A
ND 5
172
GTC-ATC
Val –Ile
p. I 172 V
20
 
68
12879
G>C
ND5
181
GGT>GGC
Gly>Gly
P.G181G
1
 
69
13065
C>T
ND5
243
GTC>CTT
Val>Val
p.V243V
1
 
70
13104
A>G
ND5
256
GGA>GGG
Gly>Gly
p.G256G
1
 
71
13174
T>C
ND5
280
TTA>CTA
Leu>Leu
p.L280L
1
 
72
13263
A>G
ND5
309
CAA>CAG
Gln>Gln
p.Q309Q
1
 
73
13368
G>A
ND5
344
GGG>GGA
Gly>Gly
p.G344G
2
Yes
74
13434
A>G
ND5
367
ATA>ATG
Met>Met
p.M366M
2
 
75
13488
T>C
ND5
384
GGT>GGC
Gly>Gly
p.G384G
1
 
76
13500
T>C
ND5
388
GGT>GGC
Pro>Pro
p.P388P
3
 
77
13563
A>G
ND5
409
CTA>CTG
Leu>Leu
P.L409L
4
 
78
13557
A>G
ND5
407
TGA>TGG
Trp>Trp
p.W407W
1
Yes
79
13617
T>G
ND5
427
ATT>ATC
Ile>Ile
p.I427I
2
 
80
13637
A>G
ND5
434
CAA>CAG
Glu>Arg
p.Q434R
2
 
81
13768
T>C
ND5
478
TTC>ATC
Phe>Ile
p.F479I
3
 
82
13914
C>A
ND5
526
CTC>CTA
Leu>Leu
p.L526L
3
 
83
14058
C>T
ND5
574
TCC>TCT
Ser>Ser
p.S574S
1
 
84 14070 A>G ND5 578 TCA>TCG Ser>Ser p.S578S 1  

Abbreviations: KC represents Keratoconus; nt- Nucleotides, A – Adenine; T – Thymine; G- Guanine; C- Cytosine; ND1 represents NADH dehydrogenase subunit 1, ND2 represents NADH dehydrogenase subunit 2; ND3- NADH dehydrogenase subunit 3; ND4- NADH dehydrogenase subunit 4; ND4L- NADH dehydrogenase subunit 4L; ND5- NADH dehydrogenase subunit 5.