Table 2. RHO mutations associated with an arRP phenotype.

Mutation	Notes	References
E150K	Found in consanguineous Indian, Pakistani and Turkish families1-4. Heterozygous carriers appear normal2. Knock-in mouse model suggests mild dominant mutation5.	1Kumaramanickavel et al., (1994) 2Azam et al., (2009) 3Saqib et al., (2015) 4Van Schil et al., (2016) 5Zhang et al. (2013)
W161ter	Found in non-consanguineous Indonesian families - heterozygous carriers appear normal6. Mutant transcript subject clearance by nonsense-mediated decay (NMD)7.	6Kartasasmita et al., (2010) 7Roman-Sanchez et al., (2016)
E249ter	Found in consanguineous French-Canadian family8. Asymptomatic heterozygous carriers show slightly depressed ERGs9. Mutant transcript subject to clearance by nonsense-mediated decay (NMD)7,10.	8Rosenfeld et al., (1992) 9Rosenfeld et al., (1995) 10Hernan et al., (2011)
M253I	Found in patient of consanguineous Turkish descent - heterozygous parents were asymptomatic11. M253I was found in the heterozygous state in 5 out of 35 LCA patients in Canadian study12.	11Collin et al., (2011) 12Mezer et al., (2006)