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.