Table 1 of Tanwar, Mol Vis 2010; 16:518-533.

Table 1. Mitochondrial DNA variations observed in primary congenital glaucoma patients.


Sample
number
Genomic
Position
Base
Change
Gene/
Location		 Amino
acid
position
Codon
change		 Amino
acid
change		 Change
in
protein
Syn/
Non-syn		 Total number
of patients
with nt changes		 GenBank
accession number
if novel
1 2707 G>A 16s RNA - - - - - 1 -
2 2790 Ins T 16s RNA - - - - - 2 GU186097
3 3311 C>T ND1 2 CCC>CTC Pro>Leu p.P2L non-syn 1 GU186068
4 3316 G>A ND1 4 GCC>ACC Ala>Thr p.A4T non-syn 1 -
5 3335 T>C ND1 10 ATT>ACT IsoLeu>Thr p.I10T non-syn 1 -
6 3398 T>C ND1 31 ATA>ACA Met>Thr p.M31T non-syn 2 GU186069
7 3480 A>G ND1 58 AAA>AAG Lys>Lys p.K58K syn 2 -
8 3645 T>C ND1 113 GTT>GTC Val>Val p.V113V syn 1 -
9 3741 C>T ND1 145 ACC>ACT Thr>Thr p.T145T syn 1 -
10 3826 T>C ND1 174 TTA>CTA Leu>Leu p.L174L syn 1 -
11 3921 C>T ND1 205 TCC>TCT Ser>Ser p.S205S syn 2 -
12 4216 T>C ND1 304 TAT>CAT Tyr>His p.Y304H non-syn 1 -
13 4225 A>G ND1 307 ATA>GTA Met>Val p.M307V non-syn 1 -
14 4502 T>C ND2 11 TCT>TCC Ser>Ser p.S11S syn 1 GU186070
15 4561 T>C ND2 31 GTA>GCA Val>Ala p.V31A non-syn 1 -
16 4580 G>A ND2 37 ATG>ATA Met>Iso p.M37I non-syn 1 -
17 4615 A>G ND2 49 AAC>AGC Asn>Ser p.N49S non-syn 1 GU186071
18 4638 A>G ND2 57 ATC>GTC Ile>Val p.I57V non-syn 3 GU186072
19 4703 T>C ND2 78 AAT>AAC Asn>Asn p.N78N syn 1 -
20 4916 A>G ND2 149 CTA>CTG Leu>Leu p.L149L syn 1 -
21 4917 A>G ND2 150 AAC>GAC Asn>Asp p.N150D non-syn 1 -
22 4944 A>G ND2 159 ATC>GTC Ile>Val p.I159V non-syn 1 -
23 5033 A>G ND2 188 GGA>GGG Gly>Gly p.G188G syn 1 -
24 5097 A>G ND2 210 ATC>GTC Ile>Val p.I210V non-syn 1 GU186073
25 5186 A>T ND2 239 TGA>TGT Trp>Cys p.W239C non-syn 4 -
26 5252 G>A ND2 261 TTG>TTA Leu>Leu p.L261L syn 1 -
27 5360 C>T ND2 297 ATC>ATT Ile>Ile p.I297I syn 1 -
28 6011 T>C CO1 36 CTT>CTC Leu>Leu p.L36L syn 1 -
29 6023 G>A CO1 4O GAG>GAA Glu>Glu p.E40E syn 1 -
30 6217 T>C CO1 105 TTA>CTA Leu>Leu p.L105L syn 1 GU186074
31 6290 C>T CO1 129 TAC>TAT) Tyr>Tyr p.Y129Y syn 3 -
32 6366 G>A CO1 155 GTC>ATC Val>Ile p.V155 I non-syn 3 -
33 6584 C>T CO1 227 GAC>GAT Asp>Asp p.D227D syn 1 GU186075
34 7280 C>T CO1 459 TTC>TTT Phe>Phe p.F459F syn 2 GU186076
35 7598 G>A CO2 5 GCG>ACG Ala>Thr p.A5T non-syn 1 -
36 7746 A>G CO2 54 AAC>AGC Asn>Ser p.N54S non-syn 1 GU186077
37 7843 A>G CO2 86 ATA>ATG Met>Met p.M86M syn 3 -
38 7868 C>T CO2 95 CTT>TTT Leu>Phe p.L95F non-syn 2 -
39 7961 T>C CO2 126 TTA>CTA Leu>Leu p.L126L syn 1 -
40 7962 T>C CO2 126 TTA>TCA Leu>Ser p.L126S non-syn 1 GU186078
41 8023 T>C CO2 146 ATT>ATC Ile>Ile p.I 146 I syn 1 -
42 8116 A>G CO2 177 GGA>GGG Gly>Gly p.G177G syn 1 GU186079
43 8136 T>C CO2 184 TTC>TTT Phe>Phe p.F184F syn 32 -
44 8252 G>A CO2 222 GGG>GGA Gly>Gly p.G222G syn 2 -
45 8346 C>T t RNA Lys - - - - - 1 GU186096
46 8396 A>G ATPase8 11 ACC>GCC Thr>Ala p.T11A non-syn 1 GU186091
47 8485 G>A ATPase8 40 AAG>AAA Lys>Lys p.K40K syn 1 GU186092
48 8502 A>G ATPase8 46 AAT>AGT Asn>Ser p.N46S non-syn 1 GU186091
49 8584 G>A ATPase6 20 GCA>ACA Ala>Thr p.A20T non-syn 2 -
50 8658 C>T ATPase6 44 ACC>ACT Thr>Thr p.T44T syn 1 GU186080
51 8684 C>T ATPase6 53 ACC>ATC Thr>Ile p.T53I non-syn 1 -
52 8697 G>A ATPase6 57 ATG>ATA Met>Met p.M57M syn 1 -
53 8701 G>A ATPase6 59 GCC>ACC Ala>Thr p.A59T non-syn 15 -
54 8843 T>A ATPase6 106 ATC>ACC Ile>Ile p.I106 I syn 2 -
55 8865 G>A ATPase6 113 GTG>GTA Val>Val p.V113V syn 2 -
56 8875 T>C ATPase6 117 TTT>CTT Phe>Thr p.F117T non-syn 1 GU186081
57 8886 G>A ATPase6 120 AAG>AAA Lys>Lys p.K120K syn 35 GU186095
58 8887 A>G ATPase6 121 ATT>GTT Ile>Val p.I121V non-syn 1 -
59 8925 A>G ATPase6 133 ACA>ACG Thr>Thr p.T133T syn 1 -
60 8928 T>C ATPase6 138 ATC>ACC Ile>Thr p.I138T non-syn 1 -
61 8943 C>T ATPase6 139 CCC>CCT Pro>Pro p.P139P syn 1 -
62 9064 G>A ATPase6 180 GCA>ACA Ala>Thr p.A180T non-syn 2 -
63 9072 A>G ATPase6 183 TCA>TCG SerSer p.S183S syn 1 -
64 9094 C>T ATPase6 190 CTT>TTT Leu>Phe p.L190F non-syn 1 -
65 9110 T>C ATPase6 195 ATT>ACT Ile>Thr p.I195T non-syn 1 -
66 9287 G>A CO3 27 ATG>ATA Met>Met p.M27M syn 1 GU186089
67 9377 G>A CO3 57 TGA>TGG Trp>Trp p.W57W syn 19 -
68 9540 C>T CO3 112 CTA>TTA Leu>Leu p.L112L syn 9 -
69 9614 A>G CO3 136 GTA>GTG Val>Val p.V136V syn 1 -
70 9698 T>C CO3 164 CTT>CTC Leu>Leu p.L164L syn 1 -
71 9716 T>C CO3 170 GGT>GGC Gly>Gly p.G170G syn 1 -
72 9767 C>T CO3 183 ACC>ACT Thr>Thr p.T187T syn 1 -
73 9768 T>C CO3 184 TCT>TCC Ser>Ser p.S184S syn 1 -
74 9967 G>A CO3 254 GTC>ATC Val>Ile p.V254I non-syn 1 GU186090
75 10142 C>T ND3 28 AAC>AAT Asn>Asn p.N28N syn 1 -
76 10181 C>T ND3 41 TTC>TTT Phe>Phe p.F41F syn 1 -
77 10365 G>C ND3 103 GCC>ACC Ala>Thr p.A103T non-syn 1 -
78 10398 G>A ND3 114 GCC>ACC Ala>Thr p.A114T non-syn 16 -
79 10400 C>T ND3 114 GCC>GCT Ala>Ala p.A114A syn 12 -
80 10410 T>A tRNA Arg - - - - - 1 -
81 10463 T>C tRNA Arg - - - - - 1 -
82 10490 T>C ND4L 7 AAT>AAC Asn>Asn p.N7N syn 1 GU186094
83 10550 A>G ND4L 27 ATA>ATG Met>Met p.M27M syn 1 -
84 11467 A>G ND4 236 TTA>TTG Leu>Leu p.L236L syn 2 -
85 11719 A>G ND4 320 GGA>GGG Gly>Gly p.G320G syn 2 -
86 12007 G>A ND4 416 TGG>TGA Trp>Trp p.W416W syn 5 -
87 12031 C>T ND4 424 AAC>AAT Asn>Asn p.N424N syn 1 GU186088
88 12097 C>T ND4 446 CTC>CTT Leu>Leu p.L446L syn 2 -
89 12106 C>T ND4 449 CTC>CTT Leu>Leu p.L449L syn 1 -
90 12130 T>C ND4 457 TTT>TTC Phe>Phe p.F457F syn 1 GU186087
91 12308 A>G tRNA Leu - - - - - 3 -
92 12372 G>A ND5 12 CTG>CTA Leu>Leu p.L12L syn 4 -
93 12477 T>C ND5 47 AGT>AGC Ser>Ser p.S47S syn 1 -
94 12498 C>T ND5 54 TTC>TTT Phe>Phe p.F54F syn 2 -
95 12561 G>A ND5 75 CAG>CAA Gln>Gln p.Q75Q syn 1 -
96 12681 T>C ND5 115 AAT>AAC Asn>Asn p.N115N syn 1 -
97 12705 T>C ND5 123 ATT>ATC Ile>Ile p.I123 I syn 10 -
98 12793 T>C ND5 153 TTG>CTG Leu>Leu p.L153L syn 1 GU186084
99 12810 A>G ND5 158 TGA>TGG Trp>Trp p.W158W syn 1 -
100 12849 A>T ND5 171 GCA>GCT Ala>Ala p.A171A syn 8 GU186085
101 12879 T>C ND5 181 GGT>GGC Gly>Gly p.G181G syn 1 -
102 12906 C>T ND5 190 ATC>ATT Ile>Ile p.I190I syn 1 GU186082
103 13020 T>C ND5 228 GGT>GGC Gly>Gly p.G228G syn 1 -
104 13135 G>A ND5 267 GCA>ACA Ala>Thr p.A267T non-syn 1 -
105 13138 G>A ND5 268 GAA>AAA Glu>Lys p.E268K non-syn 20 GU186083
106 13188 C>T ND5 284 ACC>ACT Thr>Thr p.T284T syn 1 -
107 13194 G>A ND5 286 CTG>CTA Leu>Leu p.L286L syn 1 -
108. 13215 T>C ND5 293 CTT>CTC Leu>Leu p.L293L syn 1 -
109 13368 G>A ND5 344 GGG>GGA Gly>Gly p.G344G syn 1 -
110 13500 T>C ND5 388 GGT>GGC Gly>Gly p.G388G syn 1 -
111 13539 A>G ND5 401 ATA>ATG Met>Met p.M401M syn 2 -
112 13542 A>G ND5 402 TCA>TCG Ser>Ser p.S402S syn 1 -
113 13651 A>G ND5 439 ACC>GCC Thr>Ala p.T439A non-syn 1 -
114 13656 T>C ND5 440 CTT>CTC Leu>Leu p.L440L syn 4 -
115 13708 G>A ND5 458 GCA>ACA Ala>Thr p.A458T non-syn 1 -
116 13768 T>C ND5 478 TTC>CTC Phe>Leu p.F478L non-syn 1 GU186086
117 14000 T>A ND5 555 CCT>CCA Leu>Pro p.L555P non-syn 2 -
118 14022 A>G ND5 562 TTA>TTG Leu>Leu p.L562L syn 1 -
119 14935 T>C CYB 63 TTT>TTC Phe>Phe p.F63F syn 1 -
120 15038 A>G CYB 98 ATC>GTC Ile>Val p.I98V non-syn 1 -
121 15043 G>A CYB 99 GGG>GGA Gly>Gly p.G99G syn 12 -
122 15061 A>G CYB 105 GGA>GGG Gly>Gly p.G105G syn 1 -
123 15097 T>C CYB 117 ATT>ATC Ile>Ile p.I117I syn 1 -
124 15148 G>A CYB 134 CCG>CCA Pro>Pro p.P134P syn 3 -
125 15301 G>A CYB 185 TTG>TTA Leu>Leu p.L185L syn 16 -
126 15317 G>A CYB 191 GCC>ACC Ala>Thr p.A191T non-syn 1 -
127 15452 C>A CYB 236 CTT>ATT Leu>Ile p.L236 I non-syn 2 -
128 15607 A>G CYB 287 AAA>AAG Lys>Lys p.K287K syn 1 -
129 15670 T>C CYB 308 CAT>CAC His>His p.H308H syn 1 -
130 15683 A>G CYB 312 CAA>CAG Gln>Gln p.Q312Q syn 2 GU186093
131 At 15928 G>A t RNA Thr - - - - - 1 -
132 At 15930 G>A t RNA Thr - - - - - 1 -

Key: A – Adenine; T – Thymine; G- Guanine; C- Cytosine; Syn- synonymous; Non-syn- non-synonymous; *- novel change; ND1- NADH dehydrogenase subunit 1; ND2- NADH dehydrogenase subunit 2; ND3- NADH dehydrogenase subunit 3; ND4- NADH dehydrogenase subunit 4; ND4L- NADH dehydrogenase subunit 4L; ND5- NADH dehydrogenase subunit 5; CO1- cytochrome c oxidase I; CO2- cytochrome c oxidase II; CO3- cytochrome c oxidase III; ATPase6- ATP synthase subunit a (F-ATPase protein 6); ATPase8- ATP synthase protein 8; CYB- cytochrome B; tRNA- transfer ribo nucleic acid; rRNA- ribosomal ribonucleic acid.

Tanwar, Mol Vis 2010; 16:518-533. http://www.molvis.org/molvis/v16/a59

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