Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P28845
118569

DHI1_HUMAN RecName: Full=Corticosteroid 11-beta-dehydrogenase isozyme 1; AltName: Full=11-beta-hydroxysteroid dehydrogenase 1; Short=11-DH; Short=11-beta-HSD1

Known Diseases associated with this Protein:
  CORTISONE REDUCTASE DEFICIENCY 2
2
1
2
0
1
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:

DltE - COG0300
COG4221 - COG4221
FabG - COG1028
DltE - COG3967
adh_short - pfam00106
KR - pfam08659


Swiss-Prot Protein: P28845
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FabGCOG10283.3e-3130275
COG4221COG42211e-1029254
DltECOG39676.6e-0832277
adh_shortpfam001062.2e-3035202
KRpfam086590.0002237218

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_035845Polymorphismp.VAL148GLUN/A
OMIM600713.0002 Diseasep.ARG137CYSCORTISONE REDUCTASE DEFICIENCY 2
OMIM600713.0003 Diseasep.LYS187ASNCORTISONE REDUCTASE DEFICIENCY 2



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