Table 3 of Xu, Mol Vis 2009; 15:2094-2100. Table 3 of Xu, Mol Vis 2009; 15:2094-2100.
Table 3. Sequence variations in GRM6 detected in 96 high myopia patients.
Variation |
Location |
Effect |
High myopia (n=96) |
Normal control (n=96) |
|
|---|---|---|---|---|---|
| # | c.72G>A | Exon 1 | synonymous | 1 | ND |
| 1 | c.67-82delCAGGCGGGCCTGGCGCinsT | Exon 1 | p.Gln23_Arg28delinsCys | 1 | 0 |
| 2 | c.176A>C | Exon 1 | rs2645329 | 76 | ND |
| 3 | c.504+10g>t | Intron 1 | No splicing site changed | 1 | ND |
| 4 | c.726-50g>c | Intron 2 | Splicing acceptor unaffected | 1 | 0 |
| 5 | c.858-5a>g | Intron 3 | Decrease of splicing acceptor | 1 | 0 |
| 6 | c.1131C>T | Exon 5 | rs2071246 | 87 | ND |
| 7 | c.1172G>A | Exon 6 | p.Arg391Gln | 2 | 4* |
| 8 | c.1227C>T | Exon 6 | rs2645339 | 84 | ND |
| 9 | c.1308T>C | Exon 6 | rs4701014 | 96 | ND |
| 10 | c.1353T>C | Exon 6 | rs2067011 | 84 | ND |
| 11 | c.1359C>T | Exon 7 | synonymous | 2 | ND |
| 12 | c.1383C>T | Exon 7 | synonymous | 1 | ND |
| 13 | c.1392A>G | Exon 7 | rs11746675 | 75 | ND |
| 14 | c.1537G>A | Exon 8 | p.Val513Met | 3 | 0 |
| 15 | c.2196G>A | Exon 9 | rs2071247 | 52 | ND |
| 16 | c.2437-6g>a | Intron 9 | No splicing site changed | 19 | ND |
| 17 | c.2457G>A | Exon 10 | rs2071249 | 19 | ND |
| 18 | c.2634+56a>t | Intron 10 | rs17078853 | 19 | ND |