Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P31213
401056

S5A2_HUMAN RecName: Full=3-oxo-5-alpha-steroid 4-dehydrogenase 2; AltName: Full=5 alpha-SR2; AltName: Full=SR type 2; AltName: Full=Steroid 5-alpha-reductase 2; Short=S5AR 2; AltName: Full=Type II 5-alpha reductase

Known Diseases associated with this Protein:
  PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (PPSH)
20
7
0
0
27
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:

Steroid_dh - pfam02544


Swiss-Prot Protein: P31213
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Steroid_dhpfam025449.4e-96105254

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025857Diseasep.ALA207ASPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013112Diseasep.ALA228THRPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013104Polymorphismp.ALA49THRN/A
Swiss-ProtVAR_037586Polymorphismp.ARG227GLNN/A
Swiss-ProtVAR_013134Diseasep.ARG246GLNPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025851Diseasep.ARG145TRPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_005609Diseasep.ARG246TRPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025855Diseasep.GLN126ARGPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013110Diseasep.GLU197ASPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013132Diseasep.GLU200LYSPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025854Diseasep.GLY123ARGPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025856Diseasep.GLY158ARGPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013106Diseasep.GLY115ASPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013130Diseasep.GLY85ASPPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013108Diseasep.GLY183SERPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013109Diseasep.GLY196SERPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_059791Polymorphismp.GLY203SERN/A
Swiss-ProtVAR_013113Diseasep.HIS231ARGPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013105Diseasep.LEU55GLNPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_059792Polymorphismp.LEU224HISN/A
Swiss-ProtVAR_037585Polymorphismp.LEU224METN/A
Swiss-ProtVAR_022302Polymorphismp.LEU113VALN/A
Swiss-ProtVAR_013111Diseasep.PRO212ARGPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025852Diseasep.PRO181LEUPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013133Diseasep.SER245TYRPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_025853Diseasep.TYR235PHEPseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-ProtVAR_013131Polymorphismp.VAL89LEUN/A



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