Results for the protein: P11678

Results for the Protein: P11678

1352738

8288

EPX

NCBI, UniProt

PERE_HUMAN RecName: Full=Eosinophil peroxidase; Short=EPO; Contains: RecName: Full=Eosinophil peroxidase light chain; Contains: RecName: Full=Eosinophil peroxidase heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
EOSINOPHIL PEROXIDASE DEFICIENCY
EOSINOPHIL PEROXIDASE DEFICIENCY (EPXD)

2

15

1

5

11

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Default View: An_peroxidase - pfam03098	Swiss-Prot Protein: P11678 Identical to: NP_000493 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_025140	Polymorphism	p.ALA249GLU	N/A
Swiss-Prot	VAR_015376	Disease	p.ARG286HIS	Eosinophil peroxidase deficiency (EPXD)
Swiss-Prot	VAR_060197	Polymorphism	p.ARG326HIS	N/A
Swiss-Prot	VAR_025145	Polymorphism	p.ARG364HIS	N/A
Swiss-Prot	VAR_060198	Polymorphism	p.ARG326LEU	N/A
Swiss-Prot	VAR_025143	Polymorphism	p.ARG326PRO	N/A
dbSNP	rs2302311	Polymorphism	p.ASN572TYR	N/A
dbSNP	rs11652709	Polymorphism	p.GLN122HIS	N/A
Swiss-Prot	VAR_025147	Polymorphism	p.HIS496GLN	N/A
dbSNP	rs11079339	Polymorphism	p.ILE40MET	N/A
Swiss-Prot	VAR_025141	Polymorphism	p.LYS276ARG	N/A
dbSNP	rs35750729	Polymorphism	p.LYS441THR	N/A
Swiss-Prot	VAR_025142	Polymorphism	p.PRO292LEU	N/A
dbSNP	rs35135976	Polymorphism	p.PRO358LEU	N/A
Swiss-Prot	VAR_050485	Polymorphism	p.VAL35ILE	N/A
Swiss-Prot	VAR_050486	Polymorphism	p.VAL458MET	N/A
OMIM	131399.0001	Disease	p.ARG286HIS	EOSINOPHIL PEROXIDASE 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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