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Results for the Protein: Q96N76
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HUTU_HUMAN RecName: Full=Urocanate hydratase; Short=Urocanase; AltName: Full=Imidazolonepropionate hydrolase

Known Diseases associated with this Protein:
  UROCANASE DEFICIENCY
  UROCANASE DEFICIENCY (UROD)
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3
2
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Swiss-Prot Protein: Q96N76
Identical to: NP_653240
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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 ↕
dbSNPrs9871671 Polymorphismp.ARG429CYSN/A
Swiss-ProtVAR_060221Diseasep.ARG450CYSUrocanase deficiency (UROD)
Swiss-ProtVAR_034000Polymorphismp.ARG188TRPN/A
Swiss-ProtVAR_062649Diseasep.LEU70PROUrocanase deficiency (UROD)
dbSNPrs35062810 Polymorphismp.SER311THRN/A
OMIM613012.0001 Diseasep.ARG390CYSUROCANASE DEFICIENCY
OMIM613012.0002 Diseasep.LEU70PROUROCANASE DEFICIENCY



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