Mutation data of the MYOC gene in primary open angle glaucoma

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).

*1 Abbreviations are as follows: M, Missense; N, Nonsense; P, Polymorphism; I, Insertion; FI, Frameshift Insertion; ID, Insertion and Deletion.
*2 Elevated intraocular pressure and optic nerve cupping in the presence of a biomicroscopically normal trabecular meshwork.
*3 Abbreviations are as follows: AD, Autosomal Dominant; ND, Not Described.
*4 The description 10.5 (6-27) means that averaged age is 10.5 years among 6 to 27 years.
*5 Intraocular Pressure
*6 The description 24.6 (11-45) means that averaged maximum recorded IOP is 24.6 (mmHg) among 11 to 45 (mmHg).








Last updated 7 Nov 1998