EC Number   |
Protein Variants |
Reference |
|---|
    1.14.15.6 | c835delA |
a naturally occuring CYP11A1 frameshift mutation, heterozygous mutant, phenotype, overview |
687970 |
| 1.14.15.6 | K103Q |
decrease of stability |
285430 |
| 1.14.15.6 | K103Q |
expression similar to wild-type, decreased stability or an altered heme or substrate pocket, B'-C loop, no change in interaction of P-450scc and adrenodoxin |
285433 |
| 1.14.15.6 | K104Q |
decreased expression, B'-C loop, no change in interaction of P-450scc and adrenodoxin |
285433 |
| 1.14.15.6 | K104Q |
dramatic decrease in expression level |
285430 |
| 1.14.15.6 | K109Q |
change in folding, thus, an inability of heme to be retained, helix C, no change in interaction of P-450scc and adrenodoxin |
285433 |
| 1.14.15.6 | K109Q |
dramatic changes in folding and heme insertion |
285430 |
| 1.14.15.6 | K110Q |
expression similar to wild-type, helix C, does not appear to play a role in adrenodoxin binding because it shows no change in interaction of P-450scc and adrenodoxin |
285433 |
| 1.14.15.6 | K110Q |
folding and heme insertion not affected |
285430 |
| 1.14.15.6 | K145Q |
- |
285430 |
