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Results for the Protein: Q9H0P0
117949804

5NT3A_HUMAN RecName: Full=Cytosolic 5'-nucleotidase 3A; AltName: Full=Cytosolic 5'-nucleotidase 3; AltName: Full=Cytosolic 5'-nucleotidase III; Short=cN-III; AltName: Full=Pyrimidine 5'-nucleotidase 1; Short=P5'N-1; Short=P5N-1; Short=PN-I; AltName: Full=Uridine 5'-monophosphate hydrolase 1; AltName: Full=p36

Known Diseases associated with this Protein:
  HEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
  P5N DEFICIENCY (P5ND)
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4
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UMPH-1 - pfam05822


Swiss-Prot Protein: Q9H0P0
Identical to: NP_001002010
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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-ProtVAR_023513Diseasep.ASN229SERP5N deficiency (P5ND)
Swiss-ProtVAR_023511Diseasep.ASP137VALP5N deficiency (P5ND)
Swiss-ProtVAR_023514Diseasep.GLY280ARGP5N deficiency (P5ND)
Swiss-ProtVAR_023512Diseasep.LEU181PROP5N deficiency (P5ND)
OMIM606224.0008 Diseasep.ASN190SERHEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
OMIM606224.0001 Diseasep.ASP98VALHEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
OMIM606224.0002 Diseasep.GLN177TERHEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
OMIM606224.0010 Diseasep.GLY241ARGHEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY
OMIM606224.0005 Diseasep.TYR181TERHEMOLYTIC ANEMIA DUE TO UMPH1 DEFICIENCY



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