1.1.1.300	A269Gfs*2	naturally occuring mutation, the mutant enzyme shows highly reduced activity	761045	
1.1.1.300	C201R	naturally occuring mutation in the active site, inactive mutant	761045	
1.1.1.300	C300A	the mutant shows no oxidation activity	739913	
1.1.1.300	C300S	the mutant shows reduced catalytic efficiency for the oxidation and reduction of all-trans-retinal compared to the wild-type enzyme	739913	
1.1.1.300	E194S	the mutant shows 15fold higher catalytic efficiency for the reduction of all-trans-retinal than the wild-type enzyme	739913	
1.1.1.300	E260R	naturally occuring mutation, a single base pair deletion resulting in a frameshift and premature termination, mutants display a milder late onset (average age of diagnosis is 28.5 years) retinitis pigmentosa (RP) phenotype, with intraretinal bone spicule pigmentation and attenuation of retinal arterioles, phenotypes, overview	761137	
1.1.1.300	E260Rfs*18	naturally occuring mutation, autosomal dominant RDH12 variant, the heterozygous single base pair deletion c.776delG results in a frameshift and premature termination at codon 277, in 19 affected members of a large 6 generation family	761045	
1.1.1.300	E266A	the mutant shows no oxidation activity	739913	
1.1.1.300	E457V	the mutant shows 7.5fold higher catalytic efficiency for the reduction of all-trans-retinal than the wild-type enzyme	739913	
1.1.1.300	F254Lfs*24	naturally occuring mutation c.759del, the mutation results in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant retinitis pigmentosa (RP), phenotypes, overview	761137