EC Number |
Protein Variants |
Reference |
---|
1.14.14.16 | A15T |
natural mutation found in patients with classical congenital adrenal hyperplasia, no significant difference in activity compared to wild-type |
659570 |
1.14.14.16 | A265C |
naturally occuring mutation, the mutation causes side-chain steric clashes with the neighboring residues |
728691 |
1.14.14.16 | A265V |
naturally occuring mutation, the mutation causes side-chain steric clashes with the neighboring residues |
728691 |
1.14.14.16 | A265V |
the mutant enzyme activity is similar to wild type |
698190 |
1.14.14.16 | A391T |
naturally occuring mutation, the mutation disrupts the hydrophobicity of the region |
728691 |
1.14.14.16 | A434V |
naturally occuring mutation, the mutation causes steric clashes with the heme rendering the enzyme almost inactive |
728691 |
1.14.14.16 | C169R |
naturally occuring mutation, the mutation alters the region's hydrophobicity, conserved residue C169 makes hydrophobic interactions with the loop between E-F helices and F-helix |
728691 |
1.14.14.16 | D322G |
naturally occuring mutation, the mutation prevents salt bridge formation resulting in a localized, as opposed to global, destabilization of tertiary structure |
728691 |
1.14.14.16 | D322G |
the mutation impacts significantly on enzyme function and exerts activity compatible with non-classical congenital adrenal hyperplasia, has about 27% activity for the conversion of progesterone to 11-deoxycorticosterone and 18% activity for the conversion of 17alpha-hydroxyprogesterone to 11-deoxycortisol compared to wild type activity |
698190 |
1.14.14.16 | D407N |
naturally occuring mutation, the mutation prevents salt bridge formation resulting in a localized, as opposed to global, destabilization of tertiary structure |
728691 |