Table 1.
Summary of CRX missense mutations associated with retinopathy. Reported missense mutations from patients with retinopathy, showing effects of mutation on CRX's ability to bind DNA targets and transactivate gene expression. Gold text- hypomorphic missense mutations with reduced DNA binding and transactivation. Purple text- antimorphic missense mutations with variable DNA binding acitivity. Black text- missense mutations with uncharacterized molecular function. (n.d.- not determined)
| Protein | cDNA | Associated Phenotype | Cosegregation | DNA binding | Transactivation | Reference |
|---|---|---|---|---|---|---|
| p.R41W | c.121C>T | CoRD | yes | reduced | reduced | Swain et al. (1997); Chen et al. (2002) |
| p.R41Q | c.122G>A | RP/CoRD | yes | reduced | reduced | Swain et al. (1997); Sohocki et al. (1998); Rivolta et al. (2001); Chen et al. (2002) |
| p.E42K | c.124G>A | LCA | n.d. | n.d. | n.d. | Li et al. (2011) |
| p.A56T | c.166G>A | LCA | n.d. | normal | normal | Lotery et al. (2000); Chen et al. (2002) |
| p.D65H | c.193G>C | RP (homozygote) | n.d. | n.d. | n.d. | Jin et al. (2008) |
| p.V66I | c.196G>A | RP | n.d. | n.d. | n.d. | Vallespin et al. (2007) |
| p.E80K | c.238G>A | CoRD | yes | n.d. | n.d. | Sankila et al. (2000) |
| pE80Q | c.239A>G | CoRD | yes | n.d. | n.d. | Huang et al. (2012) |
| p.E80A | c.239A>C | CoRD | yes | normal | normal + antimorphic | Freund et al. (1997); Sohocki et al. (1998); Chen et al. (2002); Terrell et al. (2012) |
| p.K88N | c.264G>T | LCA | yes | reduced (predicted) | reduced + antimorphic | Nichols et al. (2010); Chen et al. (2002); Terrell et al. (2012) |
| p.R90W | c.268C>T | CoRD (heterozygote); LCA (homozygote) | yes | reduced | reduced | Swaroop et al. (1999); Chen et al. (2002) |
| p.A112V | c335C>T | LCA | n.d. | n.d. | n.d. | Zhang et al. (2002) |
| p.R115Q | c.344G>A | RP | n.d. | n.d. | n.d. | Sohocki et al. (2001) |
| p.G122D | c.365G>A | RP | n.d. | n.d. | n.d. | Jin et al. (2008) |
| p.Y142C | c.425A>G | LCA | n.d. | n.d. | n.d. | Vallespin et al. (2007) |
| p.S152Y | c.455C>A | RP | n.d. | n.d. | n.d. | Jin et al. (2008) |
| p.A158T | c.472G>A | LCA | no | n.d. | reduced | Zernant et al. (2005); Chen et al. (2002) |
| p.V242M | c.724G>A | CoRD | n.d. | n.d. | normal | Swain et al. (1997); Rivolta et al. (2001); Chen et al. (2002) |
| p.T273L | c.818C>T | LCA | no | n.d. | n.d. | Zernant et al. (2005) |