Table 3.
Disease causing mutations in LWS and SWS1 opsin genes.
| Opsin | Mutation | Phenotype |
|---|---|---|
| L/LWS and M/LWSa | N94K (Ueyama et al., 2002) | deutan |
| C203R (Winderickx et al., 1992b), (Nathans et al., 1993) | deutan, or BCM if both L/LWS and M/LWS are affected | |
| W177R (Gardner et al., 2010) | X-linked cone-rod dystrophy | |
| R247Ter (Nathans et al., 1993) | BCM with single L/LWS opsin gene | |
| P307L (Nathans et al., 1993) | BCM with a single L/LWS-M/LWS hybrid gene | |
| R330N (Ueyama et al., 2002) | deutan | |
| G338E (Ueyama et al., 2002) | protan, deutan | |
| L/M153, I/V171, A174, V178 and A/S180 (LIAVA, LVAVA, LIAVS or MIAVA) (Carroll et al., 2004; Gardner et al., 2014; Mizrahi-Meissonnier et al., 2010; Neitz et al., 2004; Ueyama et al., 2012) | protan, deutan | |
| SWS1 | G79R (Weitz et al., 1992a) | tritan |
| L56P (Gunther et al., 2006) | tritan | |
| T190I (Baraas et al., 2012) | mild tritan (at high luminance), severe tritan (at low luminance) | |
| S214P (Weitz et al., 1992a) | tritan | |
| P264S (Weitz et al., 1992a) | tritan | |
| R283Q (Baraas et al., 2007) | tritan, SWS1 cone degeneration |
a
Mutations in L/LWS and M/LWS can cause similar impairments because high homology between these two pigments and thus are grouped together.