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Results for the Protein: Q9H2F3
47605550

3BHS7_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase type 7; AltName: Full=3 beta-hydroxysteroid dehydrogenase type VII; Short=3-beta-HSD VII; AltName: Full=3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase; Short=C(27) 3-beta-HSD; AltName: Full=Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase

Known Diseases associated with this Protein:
  BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1
  CONGENITAL BILE ACID SYNTHESIS DEFECT 1 (CBAS1)
3
2
1
2
2
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Default View:

WcaG - COG0451
adh_short - pfam00106
COG3320 - COG3320
RfbB - COG1088
KR - pfam08659
Epimerase - pfam01370
Polysacc_synt_2 - pfam02719
3Beta_HSD - pfam01073
NAD_binding_4 - pfam07993


Swiss-Prot Protein: Q9H2F3
Identical to: NP_079469
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RfbBCOG10883e-0510332
COG3320COG33200.0001310368
adh_shortpfam001061.8e-0510140
Epimerasepfam013708.9e-1212259
3Beta_HSDpfam010734.2e-15613292
Polysacc_synt_2pfam027190.0005513234
KRpfam086591.2e-0511141
NAD_binding_4pfam079933.6e-0814245

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054776Diseasep.GLU147LYSCongenital bile acid synthesis defect 1 (CBAS1)
Swiss-ProtVAR_054775Diseasep.GLY19SERCongenital bile acid synthesis defect 1 (CBAS1)
dbSNPrs34212827 Polymorphismp.LEU347PRON/A
dbSNPrs9938550 Polymorphismp.THR250ALAN/A
OMIM607764.0004 Diseasep.GLU147LYSBILE ACID SYNTHESIS DEFECT, CONGENITAL, 1



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