Results for the protein: P31213

Results for the Protein: P31213

401056

6716

SRD5A2

NCBI, UniProt

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

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Default View: Steroid_dh - pfam02544	Swiss-Prot Protein: P31213 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025857	Disease	p.ALA207ASP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013112	Disease	p.ALA228THR	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013104	Polymorphism	p.ALA49THR	N/A
Swiss-Prot	VAR_037586	Polymorphism	p.ARG227GLN	N/A
Swiss-Prot	VAR_013134	Disease	p.ARG246GLN	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025851	Disease	p.ARG145TRP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_005609	Disease	p.ARG246TRP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025855	Disease	p.GLN126ARG	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013110	Disease	p.GLU197ASP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013132	Disease	p.GLU200LYS	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025854	Disease	p.GLY123ARG	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025856	Disease	p.GLY158ARG	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013106	Disease	p.GLY115ASP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013130	Disease	p.GLY85ASP	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013108	Disease	p.GLY183SER	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013109	Disease	p.GLY196SER	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_059791	Polymorphism	p.GLY203SER	N/A
Swiss-Prot	VAR_013113	Disease	p.HIS231ARG	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013105	Disease	p.LEU55GLN	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_059792	Polymorphism	p.LEU224HIS	N/A
Swiss-Prot	VAR_037585	Polymorphism	p.LEU224MET	N/A
Swiss-Prot	VAR_022302	Polymorphism	p.LEU113VAL	N/A
Swiss-Prot	VAR_013111	Disease	p.PRO212ARG	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025852	Disease	p.PRO181LEU	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013133	Disease	p.SER245TYR	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_025853	Disease	p.TYR235PHE	Pseudovaginal perineoscrotal hypospadias (PPSH)
Swiss-Prot	VAR_013131	Polymorphism	p.VAL89LEU	N/A

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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