Results for the protein: P26439

Results for the Protein: P26439

112770

3284

HSD3B2

NCBI, UniProt

3BHS2_HUMAN RecName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; AltName: Full=3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; Short=3-beta-HSD II; AltName: Full=3-beta-HSD adrenal and gonadal type; 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

Known Diseases associated with this Protein:
3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
ADRENAL HYPERPLASIA 2 (AH2)

36

3

9

2

28

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: WcaG - COG0451 GalE - COG1087 Polysacc_synt_2 - pfam02719 Epimerase - pfam01370 3Beta_HSD - pfam01073 NAD_binding_4 - pfam07993	Swiss-Prot Protein: P26439 Identical to: NP_000189, NP_001159592 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GalE	COG1087	0.00013	3	269
Epimerase	pfam01370	2.9e-12	5	255
Polysacc_synt_2	pfam02719	2.2e-05	5	222
3Beta_HSD	pfam01073	1.7e-172	6	287
NAD_binding_4	pfam07993	3.2e-08	7	229

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_010517	Disease	p.ALA10GLU	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_000008	Disease	p.ALA245PRO	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_070028	Disease	p.ALA82PRO	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010520	Disease	p.ALA82THR	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010518	Disease	p.ALA10VAL	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010525	Disease	p.ALA167VAL	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010521	Disease	p.ASN100SER	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_048099	Polymorphism	p.ASP74ASN	N/A
dbSNP	rs6211	Polymorphism	p.GLU94GLN	N/A
Swiss-Prot	VAR_000006	Disease	p.GLU142LYS	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010523	Disease	p.GLY129ARG	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010519	Disease	p.GLY15ASP	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010535	Disease	p.GLY294VAL	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010526	Disease	p.LEU173ARG	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_000007	Disease	p.LEU205PRO	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010533	Disease	p.LEU236SER	Adrenal hyperplasia 2 (AH2)
dbSNP	rs35887327	Polymorphism	p.LEU236SER	N/A
Swiss-Prot	VAR_010522	Disease	p.LEU108TRP	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010529	Disease	p.LYS216GLU	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010531	Disease	p.PRO222GLN	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010530	Disease	p.PRO222HIS	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010524	Disease	p.PRO155LEU	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010527	Disease	p.PRO186LEU	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_065665	Disease	p.PRO341LEU	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_015411	Disease	p.PRO222THR	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010528	Disease	p.SER213GLY	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_000011	Disease	p.THR259ARG	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_010534	Disease	p.THR259MET	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_000009	Disease	p.TYR253ASN	Adrenal hyperplasia 2 (AH2)
Swiss-Prot	VAR_000010	Disease	p.TYR254ASP	Adrenal hyperplasia 2 (AH2)
OMIM	613890.0005	Disease	p.ALA10GLU	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0004	Disease	p.ARG249TER	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0007	Disease	p.GLU142LYS	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0011	Disease	p.PRO341LEU	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0008	Disease	p.PRO222THR	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0006	Disease	p.TER373CYS	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0009	Disease	p.THR259MET	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0001	Disease	p.TRP171TER	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF
OMIM	613890.0003	Disease	p.VAL248ASN	3-@BETA-HYDROXYSTEROID DEHYDROGENASE, TYPE II, DEFICIENCY OF

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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