Results for the protein: P05164

Results for the Protein: P05164

129825

4353

MPO

NCBI, UniProt

PERM_HUMAN RecName: Full=Myeloperoxidase; Short=MPO; Contains: RecName: Full=Myeloperoxidase; Contains: RecName: Full=89 kDa myeloperoxidase; Contains: RecName: Full=84 kDa myeloperoxidase; Contains: RecName: Full=Myeloperoxidase light chain; Contains: RecName: Full=Myeloperoxidase heavy chain; Flags: Precursor

Known Diseases associated with this Protein:
MYELOPEROXIDASE DEFICIENCY
MYELOPEROXIDASE DEFICIENCY (MPOD)

10

5

7

2

6

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Default View:	Swiss-Prot Protein: P05164 Identical to: NP_000241 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_023996	Polymorphism	p.ARG604CYS	N/A
Swiss-Prot	VAR_036517	Polymorphism	p.ARG447GLN	N/A
Swiss-Prot	VAR_015379	Disease	p.ARG569TRP	Myeloperoxidase deficiency (MPOD)
Swiss-Prot	VAR_023997	Polymorphism	p.GLU683GLN	N/A
dbSNP	rs2759	Polymorphism	p.ILE717VAL	N/A
Swiss-Prot	VAR_015378	Disease	p.MET251THR	Myeloperoxidase deficiency (MPOD)
Swiss-Prot	VAR_015377	Disease	p.TYR173CYS	Myeloperoxidase deficiency (MPOD)
dbSNP	rs7208693	Polymorphism	p.VAL53PHE	N/A
OMIM	606989.0005	Disease	p.ALA332VAL	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0010	Disease	p.ARG499CYS	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0001	Disease	p.ARG569TRP	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0009	Disease	p.GLY501SER	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0006	Disease	p.LEU572TRP	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0003	Disease	p.MET251THR	MYELOPEROXIDASE DEFICIENCY
OMIM	606989.0002	Disease	p.TYR173CYS	MYELOPEROXIDASE 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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