Results for the protein: P51659

Results for the Protein: P51659

1706396

3295

HSD17B4

NCBI, UniProt

DHB4_HUMAN RecName: Full=Peroxisomal multifunctional enzyme type 2; Short=MFE-2; AltName: Full=17-beta-hydroxysteroid dehydrogenase 4; Short=17-beta-HSD 4; AltName: Full=D-bifunctional protein; Short=DBP; AltName: Full=Multifunctional protein 2; Short=MPF-2; Contains: RecName: Full=(3R)-hydroxyacyl-CoA dehydrogenase; Contains: RecName: Full=Enoyl-CoA hydratase 2; AltName: Full=3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase

Known Diseases associated with this Protein:
  D-BIFUNCTIONAL PROTEIN DEFICIENCY
  D-BIFUNCTIONAL PROTEIN DEFICIENCY (DBPD)
  PERRAULT SYNDROME 1
  PERRAULT SYNDROME 1 (PRLTS1)

8

11

4

7

8

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: DltE - COG0300 COG4221 - COG4221 DltE - COG3967 FabG - COG1028 adh_short - pfam00106 PKS_KR - smart00822 KR - pfam08659 MaoC - COG2030 MaoC_dehydratas - pfam01575 HDE_HSD - cd03448 R_hydratase_like - cd03441 FAS_MaoC - cd03447 SAV4209_like - cd03453 hot_dog - cd03440 MaoC_like - cd03446 SCP2 - pfam02036	Swiss-Prot Protein: P51659 Identical to: NP_000405 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FabG	COG1028	2.2e-61	5	244
HDE_HSD	cd03448	3.1e-88	485	606
R_hydratase_like	cd03441	7.8e-34	487	606
FAS_MaoC	cd03447	2.6e-11	487	607
hot_dog	cd03440	0.00056	490	606
SAV4209_like	cd03453	5.2e-06	490	604
MaoC_like	cd03446	0.00014	507	606
COG4221	COG4221	2.3e-11	4	243
DltE	COG3967	1.7e-05	5	262
adh_short	pfam00106	2.8e-29	10	183
MaoC	COG2030	6.1e-13	469	611
MaoC_dehydratas	pfam01575	5.3e-52	480	601
SCP2	pfam02036	2.1e-34	628	731
PKS_KR	smart00822	1.1e-06	10	185
KR	pfam08659	2.4e-08	11	182

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_052313	Polymorphism	p.ALA606SER	N/A
Swiss-Prot	VAR_052312	Polymorphism	p.ALA491THR	N/A
Swiss-Prot	VAR_052311	Polymorphism	p.ALA427VAL	N/A
dbSNP	rs25640	Polymorphism	p.ARG106HIS	N/A
Swiss-Prot	VAR_065906	Disease	p.ARG106PRO	D-bifunctional protein deficiency (DBPD)
Swiss-Prot	VAR_065908	Disease	p.ASN457TYR	D-bifunctional protein deficiency (DBPD)
Swiss-Prot	VAR_037576	Disease	p.GLY16SER	D-bifunctional protein deficiency (DBPD)
dbSNP	rs11205	Polymorphism	p.ILE559VAL	N/A
dbSNP	rs28943589	Polymorphism	p.LYS140ASN	N/A
dbSNP	rs28943594	Polymorphism	p.MET728VAL	N/A
Swiss-Prot	VAR_052309	Polymorphism	p.PHE90LEU	N/A
dbSNP	rs28943592	Polymorphism	p.THR687ILE	N/A
dbSNP	rs1143650	Polymorphism	p.THR292SER	N/A
dbSNP	rs11539471	Polymorphism	p.TRP511ARG	N/A
Swiss-Prot	VAR_065907	Disease	p.TYR217CYS	Perrault syndrome 1 (PRLTS1)
OMIM	601860.0005	Disease	p.ARG81PRO	D-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM	601860.0004	Disease	p.ASN432TYR	D-BIFUNCTIONAL PROTEIN DEFICIENCY
OMIM	601860.0008	Disease	p.TYR192CYS	PERRAULT SYNDROME 1
OMIM	601860.0009	Disease	p.TYR543TER	PERRAULT SYNDROME 1

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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