Mutation type*1 |
Mutation position |
Length of affected nucleotides |
Nucleotide sequence after mutation |
Mutation name |
Case #/Frequency |
Consequence |
Disease |
Symptom |
Hereditary Pattern*3 |
Median Age at Diagnosis*4 |
Maximum Recorded IOP*5 (mmHg) |
Ethnic Origin |
Reference |
M |
1091 |
1 |
T |
G364V |
2 |
Gly->Val at codon 364 |
primary open angle glaucoma |
1*2 |
AD |
ND |
ND |
American |
Stone, E. M. et al. Science 275, 668 (1997). |
N |
1102 |
1 |
T |
Q368X |
2 |
Gln->Stop at codon 368 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American |
Stone, E. M. et al. Science 275, 668 (1997). |
M |
1309 |
1 |
C |
Y437H |
1 |
Tyr->His at codon 437 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American |
Stone, E. M. et al. Science 275, 668 (1997). |
P |
1041 |
1 |
C |
1041T/C |
4 |
polymorphism at ntd 1041 (Tyr/Tyr347) |
primary open angle glaucoma |
- |
- |
- |
- |
American |
Stone, E. M. et al. Science 275, 668 (1997). |
M |
1109 |
1 |
T |
P370L |
2 |
Pro->Leu at codon 370 |
primary open angle glaucoma |
1 |
AD |
10.5(6-27) |
ND |
French |
Adam, M. F. et al. Hum Mol Genet 6, 2091 (1997). |
M |
1430 |
1 |
G |
I477S |
1 |
Ile->Ser at codon 477 |
primary open angle glaucoma |
1 |
AD |
33(11-51) |
ND |
French |
Adam, M. F. et al. Hum Mol Genet 6, 2091 (1997). |
M |
1440 |
1 |
A |
N480K |
3 |
Asn->Lys at codon 480 |
primary open angle glaucoma |
1 |
AD |
32.3(10-75) |
ND |
French |
Adam, M. F. et al. Hum Mol Genet 6, 2091 (1997). |
M |
1495 |
1 |
T |
I499F |
1 |
Ile->Phe at codon 499 |
primary open angle glaucoma |
1 |
AD |
31(20-40) |
ND |
French |
Adam, M. F. et al. Hum Mol Genet 6, 2091 (1997). |
M |
736 |
1 |
A |
G246R |
1 |
Gly->Arg at codon 246 |
primary open angle glaucoma |
1 |
AD |
20(11-28) |
ND |
French |
Adam, M. F. et al. Hum Mol Genet 6, 2091 (1997). |
M |
1109 |
1 |
T |
P370L |
1 |
Pro->Leu at codon 370 |
primary open angle glaucoma |
1 |
AD |
21(16,26) |
>=22 |
Japanese |
Suzuki, Y. et al. Am J Hum Genet 61, 1202 (1997). |
M |
1099 |
1 |
A |
G367R |
1 |
Gly->Arg at codon 367 |
primary open angle glaucoma |
1 |
AD |
45 |
>=22 |
Japanese |
Suzuki, Y. et al. Am J Hum Genet 61, 1202 (1997). |
M |
1099 |
1 |
A |
G367R |
1 |
Gly->Arg at codon 367 |
later onset form of primary open angle glaucoma |
1 |
AD |
ND |
ND |
Irish |
Mansergh, F. C. et al. Hum Mutat 11, 244 (1998). |
M |
1276 |
1 |
T |
V426F |
1 |
Val->Phe at codon 426 |
juvenile onset, open angle glaucoma |
1 |
AD |
ND |
ND |
Spanish |
Mansergh, F. C. et al. Hum Mutat 11, 244 (1998). |
ID |
1099 |
4 |
T |
1099indelGACA->T |
4 |
indel of nucleotide 1099->Stop at codon 367 |
juvenile onset, open angle glaucoma |
1 |
AD |
28.2(8-54) |
38.1 |
Italian |
Angius, A. et al. Arch Ophthalmol 116, 793 (1998). |
M |
1099 |
1 |
A |
G367R |
1 |
Gly->Arg at codon 367 |
juvenile onset, open angle glaucoma |
1 |
AD |
14-21 |
up to 36 |
German |
Michels-Rautenstrauss, K. G. et al. Hum Genet 102, 103 (1998). |
M |
1109 |
1 |
T |
P370L |
1 |
pro->Leu at codon 370 |
juvenile onset, open angle glaucoma |
1 |
AD |
before 15 |
25-46 |
German |
Michels-Rautenstrauss, K. G. et al. Hum Genet 102, 103 (1998). |
P |
1041 |
1 |
C |
1041T/C |
3 |
polymorphism at ntd 1041 (Tyr/Tyr347) |
primary open angle glaucoma |
one of whom was homozygous |
sporadic |
ND |
ND |
German |
Michels-Rautenstrauss, K. G. et al. Hum Genet 102, 103 (1998). |
M |
1430 |
1 |
A |
I477N |
1 |
Ile ->Asn at codon 477 |
juvenile-onset primary open angle glaucoma |
1 |
AD |
17.7(4-24) |
24.6(11-45)*6 |
American |
Richards, J. E. et al. Ophthalmology 105, 1698 (1998). |
M |
1440 |
1 |
A |
N480K |
6 |
Asn->Lys at codon 480 |
primary open angle glaucoma |
1 |
AD |
10-65 |
22-50 |
Northern French |
Brezin, A. P. et al. Am J Med Genet 76, 438 (1998). |
M |
1010 |
1 |
G |
Q337R |
1 |
Gln->Arg at codon 337 |
juvenile-onset primary open angle glaucoma |
1 |
AD |
5-21 |
28-55 |
Scottish |
Stoilova, D. et al. Ophthalmic Genet 18, 109 (1997). |
M |
57 |
1 |
C/T |
Q19H |
1 |
Gln->His at codon 19 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
244 |
1 |
T |
R82C |
1 |
Arg->Cys at codon 82 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
856 |
1 |
C |
W286R |
1 |
Trp->Arg at codon 286 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
878 |
1 |
A |
T293K |
1 |
Thr->Lys at codon 293 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1081 |
1 |
T |
P361S |
1 |
Pro->Ser at codon 361 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1091 |
1 |
T |
G364V |
2 |
Gly->Val at codon 364 |
primary open angle glaucoma |
1 |
AD |
34(22-48) |
36(15-65) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
N |
1102 |
1 |
T |
Q368X |
15 |
Gln->Stop at codon 368 |
primary open angle glaucoma |
1 |
AD |
59(36-77) |
30(21-56) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1130 |
1 |
T |
T377M |
2 |
Thr->Met at codon 377 |
primary open angle glaucoma |
1 |
AD |
37(20-60) |
31(20-50) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1139 |
1 |
G |
D380G |
1 |
Asp->Gly at codon 380 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
I/FI |
1188 |
? |
? |
1188ins? |
1 |
Insertion / Frameshift Insertion |
primary open angle glaucoma |
1 |
AD |
25(19-31) |
40(12-60) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1999). |
M |
1265 |
1 |
A |
R422H |
1 |
Arg->His at codon 422 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1309 |
1 |
C |
Y437H |
2 |
Tyr->His at codon 437 |
primary open angle glaucoma |
1 |
AD |
20(8-41) |
44(14-77) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1334 |
1 |
T |
A445V |
1 |
Ala->Val at codon 445 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1408 |
1 |
T |
R470C |
1 |
Arg->Cys at codon 470 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1430 |
1 |
A |
I477N |
1 |
Ile->Asn at codon 477 |
primary open angle glaucoma |
1 |
AD |
21(12-41) |
40(20-52) |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
M |
1499 |
1 |
G |
K500R |
1 |
Lys->Arg at codon 500 |
primary open angle glaucoma |
1 |
AD |
ND |
ND |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
-83 |
1 |
A |
-83G->A |
18% |
promoter mutation |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
25 |
1 |
A |
25T/A |
0.076% |
polymorphism at ntd 25 (Cys/Ser9) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
218 |
1 |
G |
218A/G |
0.076% |
polymorphism at ntd 218 (Asn/Ser73) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
227 |
1 |
A |
227G/A |
19% |
polymorphism at ntd 227 (Arg/Lys76) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
608 |
1 |
T |
608C/T |
0.076% |
polymorphism at ntd 608 (Ser/Phe203) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1054 |
1 |
A |
1054G/A |
0.15% |
polymorphism at ntd 1054 (Glu/Lys352) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1193 |
1 |
G |
1193A/G |
1.2% |
polymorphism at ntd 1193 (Lys/Arg398) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1264 |
1 |
T |
1264C/T |
0.076% |
polymorphism at ntd 1264 (Arg/Cys422) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1273 |
1 |
C |
1273T/C |
0.076% |
polymorphism at ntd 1273 (Ser/Pro425) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1418 |
1 |
G |
1418A/G |
0.076% |
polymorphism at ntd 1418 (Tyr/Cys473) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1483 |
1 |
A |
1483G/A |
0.076% |
polymorphism at ntd 1483 (Val/Ile495) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
39 |
1 |
? |
39T/? |
0.53% |
polymorphism at ntd 39 (Pro/Pro13) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
366 |
1 |
? |
366C/? |
0.53% |
polymorphism at ntd 366 (Gly/Gly122) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
477 |
1 |
? |
477A/? |
0.38% |
polymorphism at ntd 477 (Leu/Leu159) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
612 |
1 |
? |
612G/? |
0.076% |
polymorphism at ntd 612 (Thr/Thr204) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
798 |
1 |
A |
798G/A |
0.076% |
polymorphism at ntd 798 (Lys/Lys266) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
855 |
1 |
? |
855G/? |
0.69% |
polymorphism at ntd 855 (Thr/Thr285) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
975 |
1 |
? |
975G/? |
1.1% |
polymorphism at ntd 975 (Thr/Thr325) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
987 |
1 |
? |
987G/? |
0.076% |
polymorphism at ntd 987 (Val/Val329) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1041 |
1 |
C |
1041T/C |
5.4% |
polymorphism at ntd 1041 (Tyr/Tyr347) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1188 |
1 |
A |
1188G/A |
0.15% |
polymorphism at ntd 1188 (Glu/Glu396) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |
P |
1317 |
1 |
? |
1317C/? |
0.076% |
polymorphism at ntd 1317 (Val/Val439) |
primary open angle glaucoma |
- |
- |
- |
- |
American/Australian |
Alward, W. L. M. et al. N Engl J Med 338, 1022 (1998). |