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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
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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 ↕
DltECOG03002.1e-0929289
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



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