| 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). |