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Results for the Protein: P05164
129825
MPO

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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Swiss-Prot Protein: P05164
Identical to: NP_000241
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023996Polymorphismp.ARG604CYSN/A
Swiss-ProtVAR_036517Polymorphismp.ARG447GLNN/A
Swiss-ProtVAR_015379Diseasep.ARG569TRPMyeloperoxidase deficiency (MPOD)
Swiss-ProtVAR_023997Polymorphismp.GLU683GLNN/A
dbSNPrs2759 Polymorphismp.ILE717VALN/A
Swiss-ProtVAR_015378Diseasep.MET251THRMyeloperoxidase deficiency (MPOD)
Swiss-ProtVAR_015377Diseasep.TYR173CYSMyeloperoxidase deficiency (MPOD)
dbSNPrs7208693 Polymorphismp.VAL53PHEN/A
OMIM606989.0005 Diseasep.ALA332VALMYELOPEROXIDASE DEFICIENCY
OMIM606989.0010 Diseasep.ARG499CYSMYELOPEROXIDASE DEFICIENCY
OMIM606989.0001 Diseasep.ARG569TRPMYELOPEROXIDASE DEFICIENCY
OMIM606989.0009 Diseasep.GLY501SERMYELOPEROXIDASE DEFICIENCY
OMIM606989.0006 Diseasep.LEU572TRPMYELOPEROXIDASE DEFICIENCY
OMIM606989.0003 Diseasep.MET251THRMYELOPEROXIDASE DEFICIENCY
OMIM606989.0002 Diseasep.TYR173CYSMYELOPEROXIDASE DEFICIENCY



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