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Results for the Protein: P26439
112770

3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; Short=3-beta-HSD II; AltName: Full=3-beta-HSD adrenal and gonadal type; Includes: RecName: Full=3-beta-hydroxy-Delta(5)-steroid dehydrogenase; AltName: Full=3-beta-hydroxy-5-ene steroid dehydrogenase; AltName: Full=Progesterone reductase; Includes: RecName: Full=Steroid Delta-isomerase; AltName: Full=Delta-5-3-ketosteroid isomerase

Known Diseases associated with this Protein:
  3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
  ADRENAL HYPERPLASIA 2 (AH2)
36
3
9
2
28
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Default View:

WcaG - COG0451
GalE - COG1087
Polysacc_synt_2 - pfam02719
Epimerase - pfam01370
3Beta_HSD - pfam01073
NAD_binding_4 - pfam07993


Swiss-Prot Protein: P26439
Identical to: NP_000189, NP_001159592
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
WcaGCOG04515.8e-343362
GalECOG10870.000133269
Epimerasepfam013702.9e-125255
Polysacc_synt_2pfam027192.2e-055222
3Beta_HSDpfam010731.7e-1726287
NAD_binding_4pfam079933.2e-087229

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010517Diseasep.ALA10GLUAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_000008Diseasep.ALA245PROAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_070028Diseasep.ALA82PROAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010520Diseasep.ALA82THRAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010518Diseasep.ALA10VALAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010525Diseasep.ALA167VALAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010521Diseasep.ASN100SERAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_048099Polymorphismp.ASP74ASNN/A
dbSNPrs6211 Polymorphismp.GLU94GLNN/A
Swiss-ProtVAR_000006Diseasep.GLU142LYSAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010523Diseasep.GLY129ARGAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010519Diseasep.GLY15ASPAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010535Diseasep.GLY294VALAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010526Diseasep.LEU173ARGAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_000007Diseasep.LEU205PROAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010533Diseasep.LEU236SERAdrenal hyperplasia 2 (AH2)
dbSNPrs35887327 Polymorphismp.LEU236SERN/A
Swiss-ProtVAR_010522Diseasep.LEU108TRPAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010529Diseasep.LYS216GLUAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010531Diseasep.PRO222GLNAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010530Diseasep.PRO222HISAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010524Diseasep.PRO155LEUAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010527Diseasep.PRO186LEUAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_065665Diseasep.PRO341LEUAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_015411Diseasep.PRO222THRAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010528Diseasep.SER213GLYAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_000011Diseasep.THR259ARGAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_010534Diseasep.THR259METAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_000009Diseasep.TYR253ASNAdrenal hyperplasia 2 (AH2)
Swiss-ProtVAR_000010Diseasep.TYR254ASPAdrenal hyperplasia 2 (AH2)
OMIM613890.0005 Diseasep.ALA10GLU3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0004 Diseasep.ARG249TER3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0007 Diseasep.GLU142LYS3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0011 Diseasep.PRO341LEU3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0008 Diseasep.PRO222THR3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0006 Diseasep.TER373CYS3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0009 Diseasep.THR259MET3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0001 Diseasep.TRP171TER3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM613890.0003 Diseasep.VAL248ASN3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF



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