Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: NP_001021384
71067343

cytochrome P450 11B1, mitochondrial isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
  ADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE
  DEFICIENCY
10
3
10
3
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

CypX - COG2124
p450 - pfam00067




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
p450pfam000677.1e-5042433

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs4541 Polymorphismp.ALA386VALN/A
dbSNPrs4534 Polymorphismp.ARG43GLNN/A
dbSNPrs142163070 Polymorphismp.LYS173ARGN/A
OMIM610613.0017 Diseasep.ALA368ASPADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0004 Diseasep.ARG374GLNADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0001 Diseasep.ARG1HISADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0007 Diseasep.ASN133HISADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0016 Diseasep.PRO94LEUADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0009 Diseasep.PRO42SERADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0003 Diseasep.THR318METADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0008 Diseasep.THR319METADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0006 Diseasep.TRP116TERADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY
OMIM610613.0015 Diseasep.TYR1TERADRENAL HYPERPLASIA, CONGENITAL, DUE TO STEROID 11-BETA-HYDROXYLASE||DEFICIENCY



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258