Table 3 of Tanwar, Mol Vis 2010; 16:518-533.

Table 3. Mitochondrial DNA variations and clinical features of primary congenital glaucoma patients.


Sequence variations in different mitochondrial genes



Patient number

ND1

ND2

CO1

CO2

ATPase8

ATPase6

CO3

ND3

ND4L

ND4

ND5

CYB
Other
changes		 Last cup disc ratio (OS/OD) at presentation
Corneal diameter (mm) OS/OD		 IOP (mmHg) OS/OD
1 – – p.Y129Y; p.F459F p.M86M; p.L95F – p.A20T; p.A59T p.W57W; p.L112L p.A114T - – p.I123I; p.E268K; p.M401M; p.L555P p.P134P; p.L185L Ins. of T at 2790_91 (16sRNA) Total cupping 15x15/15x15.5 40/30
2 – – p.Y129Y; p.F459F p.M86M; p.L95F – p.A20T; p.A59T p.W57W; p.L112L p.A114T - – p.I123I; p.E268K; p.M401M; p.L555P p.P134P; p.L185L Ins. of T at 2790_91 (16sRNA) 0.8:1/0.8:1 13x13/13x13 36/40
3 p.M31T
p.V155 I
– p.V113V p.W57W p.A114A - p.W416W p.E268K p.G99G - Hazy MEDIA 15x14/15x15 26/38
4 – – p.D227D G222G – I195T W57W A114A - p.W416W p. E268K p.A191T; p.Q312Q - 0.4:1/0.4:1 12x11/12x12 22/24
5 – – – p.N54S – p.A59T p.W57W; p.L112L p.A114T -
p.I190I; p.E268K p.G99G; p.L185L - 0.7:1/0.7:1 14.5x15/15x15 28/28
6 p.Y304H; p.M307V p.N150T – –
p.M57M p.W57W; p.L112L p.A114T - – p. I123I; p.E268K; p.G344G p.L236I; p.K287Q - 0.5:1/0.5:1 12x13/12x13 22/23
7 – – – p.I146I; p.F184F – p.A59T; p.P139P p.M27M; p.W57W; p.L112L; p.T187T p.A114T - p.L236L p.I123I; p.E268K p.F63F; p.G99G; p.G105G; p.L185L A>G at 12308 tRNA Leu 0.4:1/0.4:1 12x13/11x11.5 38/14
8 – – – p.G177G – – p.W57W p.A114A - – p.Q75Q; p.E268K p.G99G G>A at 15928 (t RNA Thr) Hazy media NA 23/25
9 p.L174L; p.S205S – – – – – p.W57W p.A114A - – p.I123I; p.V172I; p.E268K; p.L293L p.G99G C>T at 8346 (t RNA Lys) NA 12x12/12x12 22/22
10 p.V113V; p.T145T p.S11S; p.I297I
L126S; F184F
p.I106I; p.T53 I p.W57W; p.L112L p.N28N; p.A114T - p.L236L p.I123I; p.E268K; p.G388G – A>G at 12308 tRNA Leu NA NA 23/24
11 – p.W239C p.L105T – – p.A59T; p.L190F p.W57W; p.L112L; p.V136V p.A114T - p.L449L p.I123I; p.L153L; p.E268K; p.L286L p.L185L G>A at 2707 (16sRNA); A>G at 12308 tRNA Leu; G>A at 15930 tRNA Arg NA 14x14/14x15 26/22
12 p.P2L p.N49S – – – A59T; I106I – p.A114T - p.G320G p.N115N; p.I123I; p.E268K; p.L440L; p.A458T; p.F478L p.L185L - NA 14x14.5/14x14.4 32/32
13 p.M31T – p.V155 I – – p.V113V p.W57W p.A114A - p.W416W p.A171A; E268K p.G99G - Hazy media 14x14/14x14 31/30
14 – – – – – p.S183S p.W57W p.A114A - p.W416W p.A171A; p.E268K; p.T284T p.G99G - Hazy media NA 25/24
15 – p.L261L – p.L126L p.T11A; p.N46S – p.W57W; p.S184S p.A114A - – p.A171A; p.E268K p.G99G; p.H308H - 0.6:1/0.6:1 14.5x14/13.5x13 32/32
16 – – – – p.K40K – p.W57W p.A114A - p.W416W p.F54F; p.A171A; p.A267T; p.E268K p.G99G - 0.4:1/0.5:1 11x11/12x12.5 18/26
17 p.S205S – – – – p.T44T p.W57W p.A114A - p.F457F S47S; A171A; G181G; E268K p.G99G - NA 14x14/14x14.5 30/28
18 – – – – – p.A59T p.W57W; p.L112L p.A114T - p.G320G p.I123I; p.A171A; p.E268K p.L185L; p.Q312Q - NA 14.5x14/14x14 20/20
19 – – p.V155 I p.A5T – p.F17T; p.A180T p.W57W p.A103T; p.A114A - – p.A171A; p.G228G; p.E268K p.G99G - 0.5:1 1 12x12.5/12x12 22/22
20 p.I10T – p.Y129Y p.M86M – p.A59T p.W57W; p.L112L p.A114T - – p.I123I; p.V172I p.I98V; p.P134P; p.L185L - Hazy media 12x13/13x13 18/37
21 – p.I59V – – – p.K120K – – - p.L446L – p.L185L - Hazy media 15x16/11.5x12 32/15
22 – – – p.G222G – p.K120K
p.A114A - - –
- 0.7:1/0.5:1 15x15/16x16 28/28
23 p.K58K p.V31A
– – p.A59T; p.K120K p.L164L; p.G170G p.A114T p.M27M - p.L12L p.L185L - Hazy media 14x15/14x15 34/36
24 –
– – – p.A59T; p.K120K; p.P134P -
- - – p.L185L; p.L236I T>A at 10411 (t RNA Arg) 0.7:1/0.7:1 NA 32/10
25 – p.I57V; p.W239C – – – p.A59T; p.K120K - p.A114T - - p.L12L; p.L440L – - NA 14x15/14x15 22/22
26 – p.I57V; p.W239C – – – p.A59T; p.K120K - p.A114T - - p.L12L; p.L440L – - Hazy media 13x13.5/15x14.5 22/22
27 – p.L149L; p.G188G – – – p.K120K - p.A114A - - p.T439A p.L185L - 0.8:1/0.8:1 13x13.5/13x13.5 20/20
28 – p.M37I; p.N78N – – – p.K120K - p.A114A - - – p.G99G - hazy media 14x14/14x14 22/24
29 – – p.E40E – – p.A59T; p.K120K - p.A114T p.N7N - – – - NA 14x14/11x11 18/22
30 p.A4T – – – – p.K120K ; p.I121V V254I p.F41F; p.A114T - p.N424N – p.L185L - Hazy media corneal ulcer/14x14 18/20
31 – p.I210V p.L36L – – p.K120K - p.A114A - - – p.I117I - Hazy media 12x10/12x12.5 40/26
32 – p.I57V; p.W239C – – – p.A59T; p.K120K; p.A180T - p.A114T - - p.L12L p.L185L - 0.8:1 1 12x12/12x12 22/26
33 – – – – – p.K120K - – - - – p.L185L - 0.8:1/0.9:1 14x14/14x14 26/24
34 – – – - - p.K120K; p.T133T - p.A114A - - p.S402S – - 0.5:1/0.5:1 12x12/12x12.5 20/22
35 p.K58K – – – – p.K120K - p.A114A - p.L446L – – – 0.5:1/0.3:1 13x13/13x13.5 24/16

Key: NA- not available; OD- right eye; OS- left eye; OU- both eyes; mmHg- milimeter of mercury; IOP- intra ocular pressure; 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.

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

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