EC Number   |
Protein Variants |
Reference  |
|---|
   1.1.1.300 | R25G/K26I |
The mutation allows the enzyme to flip its orientation in the membrane. The mutant is glycosylated in intact cells. |
654687 |
| 1.1.1.300 | Q189X |
mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy |
656851 |
| 1.1.1.300 | R62X |
mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy |
656851 |
| 1.1.1.300 | T49M |
mutation found in an individual affected by autosomal recessive childhood-onset severe retinal dystrophy |
656851 |
| 1.1.1.300 | Y226C |
mutation present in all individuals affected by autosomal recessive childhood-onset severe retinal dystrophy from three Austrian kindreds, enzyme expressed in COS-7 cells shows diminished activity |
656851 |
| 1.1.1.300 | I51N |
site-directed mutagenesis, significant activity in vitro. Dramatically reduced affinity for NADPH results in loss of function within cells |
685381 |
| 1.1.1.300 | L99I |
site-directed mutagenesis, about 30% of wild-type activity |
685381 |
| 1.1.1.300 | more |
transfection with retinol dehydrogenase 12 protects cells against nonanal-induced toxicity but is ineffective against 4-hydroxynonenal |
685381 |
| 1.1.1.300 | S175P |
site-directed mutagenesis, no catalytic activity. Protein is stable and abundantly expressed |
685381 |
| 1.1.1.300 | T49M |
site-directed mutagenesis, significant activity in vitro. Dramatically reduced affinity for NADPH results in loss of function within cells |
685381 |
