Table 3 of Zhang, Mol Vis 2009; 15:2911-2918. Table 3 of Zhang, Mol Vis 2009; 15:2911-2918.
Table 3. Sequence variations found in BMP4, CRYBA4, GDF6, LRP6, RAX, SIX3, SIX6, SOX2, and VSX2.
Gene |
Exon |
Sequence variation |
Amino acid change |
Patient number |
Result |
|---|---|---|---|---|---|
| BMP4 | 4 | c.455T>C | S155S | TT:TC:CC = 19:10:3 | rs17563 |
| 4 | c.751C>T | H251Y | 1 | Novel variation | |
| CRYBA4 | Intron 2 | c.40-71C>T | No splice site change | 2 | rs2071860 |
| Intron 3 | c.158+58C>T | No splice site change | 3 | rs58707060 | |
| Intron 3 | c.159-20A>G | No splice site change | AA:A/G:GG = 8:19:13 | rs59023621 | |
| Intron 5 | c.444-18g>a | No splice site change | 4 | ||
| GDF6 | 1 | c.255G>T | P85P | 1 | |
| LRP6 | 5 | c.867C>T | D289D | 1 | |
| 11 | c.2450C>G | S817C | 1 | rs2302686 | |
| 14 | c.3184G>A | V1062I | 5 | rs2302685 | |
| RAX | 1 | c.132C>A | D44E | 6 | rs2271733 |
| 3 | c.882A>G | Q294Q | 4 | ||
| SIX3 | 1 | c.90G>T | A30A | 4 | |
| SIX6 | 1 | c.421C>A | N141K | 7 | rs33912345 |
| 2 | c.637C>T | P213S | 1 | ||
| 2 | c.608G>A | R203Q | 1 | Novel variation | |
| SOX2 | 1 | c.573A>G | A191A | 1 | |
| VSX2 | 4 | c.750G>A | P250P | 1 |