Results for the protein: P07099

Results for the Protein: P07099

123926

2052

EPHX1

NCBI, UniProt

HYEP_HUMAN RecName: Full=Epoxide hydrolase 1; AltName: Full=Epoxide hydratase; AltName: Full=Microsomal epoxide hydrolase

Known Diseases associated with this Protein:
  EMPHYSEMA, SUSCEPTIBILITY
  LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO
  PREECLAMPSIA, SUSCEPTIBILITY TO, INCLUDED;;

1

12

1

4

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: EHN - pfam06441	Swiss-Prot Protein: P07099 Identical to: NP_000111, NP_001129490 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 ↕
dbSNP	rs2234697	Polymorphism	p.ARG49CYS	N/A
Swiss-Prot	VAR_013300	Polymorphism	p.ARG454GLN	N/A
dbSNP	rs3738046	Polymorphism	p.ARG43THR	N/A
Swiss-Prot	VAR_018347	Polymorphism	p.GLU44GLN	N/A
dbSNP	rs2234922	Polymorphism	p.HIS139ARG	N/A
Swiss-Prot	VAR_023306	Polymorphism	p.LEU452GLN	N/A
Swiss-Prot	VAR_013299	Polymorphism	p.LEU260PRO	N/A
Swiss-Prot	VAR_051828	Polymorphism	p.THR275ALA	N/A
Swiss-Prot	VAR_005297	Polymorphism	p.THR396ILE	N/A
Swiss-Prot	VAR_023305	Polymorphism	p.THR408MET	N/A
dbSNP	rs1051740	Polymorphism	p.TYR113HIS	N/A
Swiss-Prot	VAR_023304	Polymorphism	p.VAL285LEU	N/A
OMIM	132810.0001	Disease	p.TYR113HIS	LYMPHOPROLIFERATIVE DISORDERS, SUSCEPTIBILITY TO\|\|PREECLAMPSIA, SUSCEPTIBILITY TO, INCLUDED;;\|\|EMPHYSEMA, SUSCEPTIBILITY

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258