EC Number   |
Protein Variants |
Reference |
|---|
    1.14.15.4 | A165D |
naturally occuring mutation in CYP11B1, inactive or almost inactive mutant |
712572 |
| 1.14.15.4 | A1859G |
naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview |
673954 |
| 1.14.15.4 | A1889G |
naturally occuring polymorphisms at positions 1889 and 1859 in hypertensive patients, overview |
673954 |
| 1.14.15.4 | G314R/Q43R/V386A |
naturally occuring mutant isolated from a patient with adrenal hyperplasia, gene structure, overview, CYP11B1 deficiency is caused by compound heterozygosity for mutation G314R of one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele, the PSV11 beta2-beta1 chimera dioes not have 18-hydroxylase/oxidase activity, but shows 11beta-hydroxylase activity |
673923 |
| 1.14.15.4 | G59S |
mutation in CYP11B3, 5-6fold reduction of activity |
285410 |
| 1.14.15.4 | K254_A259del |
naturally occuring mutation in CYP11B1, inactive or almost inactive mutant |
712572 |
| 1.14.15.4 | L299P |
naturally occuring missense mutations involved in development of congenital adrenal hyperplasia due to enzyme deficiency, the L299P mutation causes a change in the position of the I helix relative to the heme group, multisteroid analysis and phenotype, overview, the mutant enzymes shows 1.2% of wild-type activity with 11-deoxycortisol |
675054 |
| 1.14.15.4 | L299P |
naturally occuring mutation in a consanguineous Turkish family, phenotype with complete external virilization, borderline elevated blood pressure, and genital alterations, overview |
687021 |
| 1.14.15.4 | L489S |
naturally occuring mutation from homozygous patients, non-classical congenital adrenal hyperplasia clinical phenotype, that cosegregates, with early pubic hair development and infertility, genotyping and phenotyping of a Turkish family |
673925 |
| 1.14.15.4 | M88I |
naturally occuring mutation in CYP11B1, the mutant shows 40% of wild-type activity |
712572 |
