EC Number   |
Protein Variants |
Reference |
|---|
   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 |
