EC Number   |
Protein Variants |
Reference |
|---|
    1.14.14.14 | D309N |
mutant retains its ability to bind to androstenedione across the entire pH range studied |
745320 |
| 1.14.14.14 | R192H |
homozygous CYP19A1 mutation identified in two siblings of consanguineous parents. Mutation causes a severe phenotype of aromatase deficiency in a 46,XX newborn and maybe hypospadias and cryptorchidism in a 46,XY, but no maternal androgen excess during pregnancy |
745768 |
| 1.14.14.14 | R264C |
single nuclotide polymorphism, impairs the correct binding of both substrate and inhibitor molecules. contrary to wild-type, mutant undergoes a less efficient packing process, suggesting a minor flexibility of the mobile segments |
764251 |
| 1.14.14.14 | R264C |
with the wild-type cytochrome P450 oxidoreductase POR as a redox partner, polymorphism R264C shows only 15% of wild-type aromatase activity. With variant P284L-POR as a redox partner, R264C loses all activity but retains 6.7% of activity with P284T-POR |
765283 |
| 1.14.14.14 | R264H |
single nuclotide polymorphism, impairs the correct binding of both substrate and inhibitor molecules. contrary to wild-type, mutant undergoes a less efficient packing process, suggesting a minor flexibility of the mobile segments |
764251 |
| 1.14.14.14 | R264H |
with the wild-type cytochrome P450 oxidoreductase POR as a redox partner, polymorphism R264H shows 87% of wild-type aromatase activity but low activities with both the POR-P284L as well as the POR-P284T variants. The R264H variant has more than threefold higher activity compared to wild-type when the POR-Y607C variant is used as the redox partner |
765283 |
