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Results for the Protein: Q9NVS9
37082126

PNPO_HUMAN RecName: Full=Pyridoxine-5'-phosphate oxidase; AltName: Full=Pyridoxamine-phosphate oxidase

Known Diseases associated with this Protein:
  PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
  PYRIDOXINE-5'-PHOSPHATE OXIDASE DEFICIENCY (PNPO DEFICIENCY)
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Default View:

PdxH - COG0259
Pyridox_oxidase - pfam01243
PNPOx_C - pfam10590


Swiss-Prot Protein: Q9NVS9
Identical to: NP_060599
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PdxHCOG02592.8e-9529261
Pyridox_oxidasepfam012431.4e-3157153
PNPOx_Cpfam105902.3e-26206261

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17679445 Polymorphismp.ARG116GLNN/A
Swiss-ProtVAR_029360Diseasep.ARG229TRPPyridoxine-5'-phosphate oxidase deficiency (PNPO deficiency)
Swiss-ProtVAR_029358Polymorphismp.GLU50LYSN/A
OMIM603287.0004 Diseasep.ALA174TERPYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
OMIM603287.0001 Diseasep.ARG229TRPPYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
OMIM603287.0003 Diseasep.TER262GLNPYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY



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