Results for the protein: P37058

Results for the Protein: P37058

1169300

3293

HSD17B3

NCBI, UniProt

DHB3_HUMAN RecName: Full=Testosterone 17-beta-dehydrogenase 3; AltName: Full=17-beta-hydroxysteroid dehydrogenase type 3; Short=17-beta-HSD 3; AltName: Full=Testicular 17-beta-hydroxysteroid dehydrogenase

Known Diseases associated with this Protein:
17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
MALE PSEUDOHERMAPHRODISM WITH GYNECOMASTIA (MPH)

22

4

8

2

16

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Default View: COG4221 - COG4221 DltE - COG0300 FabG - COG1028 DltE - COG3967 adh_short - pfam00106	Swiss-Prot Protein: P37058 Identical to: NP_000188 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FabG	COG1028	2.4e-21	44	278
COG4221	COG4221	2.4e-11	41	251
DltE	COG3967	3.1e-10	44	296
adh_short	pfam00106	4.4e-24	49	217

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_016067	Disease	p.ALA56THR	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_006955	Disease	p.ALA203VAL	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_006953	Disease	p.ARG80GLN	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_006954	Disease	p.ARG80TRP	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016069	Disease	p.ASN130SER	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016073	Disease	p.CYS268TYR	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016070	Disease	p.GLN176PRO	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016203	Disease	p.GLU215ASP	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_061845	Polymorphism	p.GLY289ARG	N/A
dbSNP	rs2066479	Polymorphism	p.GLY289CYS	N/A
Swiss-Prot	VAR_014871	Polymorphism	p.GLY289SER	N/A
Swiss-Prot	VAR_006957	Disease	p.MET235VAL	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016072	Disease	p.PHE208ILE	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016074	Disease	p.PRO282LEU	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_006956	Disease	p.SER232LEU	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016068	Disease	p.SER65LEU	Male pseudohermaphrodism with gynecomastia (MPH)
Swiss-Prot	VAR_016071	Disease	p.VAL205GLU	Male pseudohermaphrodism with gynecomastia (MPH)
dbSNP	rs2066480	Polymorphism	p.VAL31ILE	N/A
OMIM	605573.0008	Disease	p.ALA56THR	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0004	Disease	p.ALA203VAL	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0003	Disease	p.ARG80GLN	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0007	Disease	p.ARG80TRP	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0009	Disease	p.ASN130SER	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0010	Disease	p.CYS268TYR	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0002	Disease	p.MET235VAL	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY
OMIM	605573.0001	Disease	p.SER232LEU	17-@BETA HYDROXYSTEROID DEHYDROGENASE III DEFICIENCY

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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