Table 3 of Pathak, Mol Vis 2011; 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.

Pathak, Mol Vis 2011; 17:1514-1525. http://www.molvis.org/molvis/v17/a170

©2011 Molecular Vision http://www.molvis.org/molvis/

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