Results for the protein: P14060

Results for the Protein: P14060

112767

3283

HSD3B1

NCBI, UniProt

3BHS1_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 1; AltName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type I; Short=3-beta-HSD I; AltName: Full=Trophoblast antigen FDO161G; 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

			0 7 0 4 3

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Default View: NAD_binding_4 - pfam07993	Swiss-Prot Protein: P14060 Identical to: NP_000853 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_048097	Polymorphism	p.ARG71ILE	N/A
Swiss-Prot	VAR_048098	Polymorphism	p.GLY90SER	N/A
dbSNP	rs6201	Polymorphism	p.ILE79VAL	N/A
dbSNP	rs4986951	Polymorphism	p.LEU56VAL	N/A
dbSNP	rs6205	Polymorphism	p.PHE286LEU	N/A
dbSNP	rs1047303	Polymorphism	p.THR367ASN	N/A
Swiss-Prot	VAR_048096	Polymorphism	p.THR54ILE	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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