Table 1 of Jia, Mol Vis 2009; 15:89-98. Table 1 of Jia, Mol Vis 2009; 15:89-98.
Table 1. MYOC polymorphisms identified in this study.
Location |
Sequence change |
Codon Change |
Allele frequency (%) | Genotype frequency | ||
|---|---|---|---|---|---|---|
| POAG (n=352) | Control (n=400) | POAG (n=176) | Control (n=200) | |||
| Promoter | −126 T>C | - | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Promoter | −83 G>A | - | 16 (4.5) | 30 (7.5) | 2/12/162 | 3/24/173 |
| Exon 1 | c. 34 G>C | G12R* | 3(0.85) | 0 (0) | 0/3/173 | 0/0/200 |
| Exon 1 | c. 57 G>T | Q19H | 0 (0) | 1 (0.25) | 0/0/176 | 0/1//199 |
| Exon 1 | c. 136 C>T | R46X | 2 (0.57) | 3 (0.75) | 0/2/174 | 0/3/197 |
| Exon 1 | c. 158 T>C | V53A* | 1 (0.28) | 0 (0) | 0/1/175 | 0/0/200 |
| Exon 1 | c. 227 G>A | R76K | 13 (3.69) | 28 (7) | 0/13/163 | 1/26/173 |
| Exon 1 | c. 369 C>T | T123T | 2 (0.57) | 1 (0.25) | 0/2/174 | 0/1/199 |
| Exon 1 | c. 482 A>G | Q161R | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Exon 1 | c. 547 G>A | G183S | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Intron 1 | IVS1+16 G>T | - | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Exon 2 | c. 611 C>T | T204M | 0 (0) | 2 (0.5) | 0/0/176 | 0/2/198 |
| Exon 2 | c. 624 C>G | D208E | 1 (0.28) | 3 (0.75) | 0/1/175 | 0/3/197 |
| Intron 2 | IVS 2+35 A>G | - | 69 (19.6) | 84 (21) | 9/51/116 | 7/70/123 |
| Intron 2 | IVS 2+172 C>A | - | 4 (1.14) | 1 (0.25) | 0/4/172 | 0/1/199 |
| Exon 3 | c. 864 C>T | I288I | 1 (0.28) | 1 (0.25) | 0/1/175 | 0/1/199 |
| Exon 3 | c. 927 G>A | Q309Q | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Exon 3 | c. 1041 T>C | Y347Y | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Exon 3 | c. 1058 C>T | T353I* | 1 (0.28) | 0 (0) | 0/1/175 | 0/0/200 |
| Exon 3 | c. 1283 A>G | N428S | 0 (0) | 1 (0.25) | 0/0/176 | 0/1/199 |
| Exon 3 | c. 1464 C>T | A488A | 0 (0) | 2 (0.5) | 0/0/176 | 0/2/198 |
| 3′UTR | 1515+73 G>C | - | 3 (0.85) | 1 (0.25) | 0/3/173 | 0/1/199 |