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Known Diseases associated with this Protein: |  UROCANASE DEFICIENCY
| UROCANASE DEFICIENCY (UROD)
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|  | Tips: The Domains on the Default View are decided by the Domain's E-Value. Clicking a check box will display or hide the correlated domain. To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic. |
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 Default View:
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Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs9871671 | Polymorphism | p.ARG429CYS | N/A | | Swiss-Prot | VAR_060221 | Disease | p.ARG450CYS | Urocanase deficiency (UROD) | | Swiss-Prot | VAR_034000 | Polymorphism | p.ARG188TRP | N/A | | Swiss-Prot | VAR_062649 | Disease | p.LEU70PRO | Urocanase deficiency (UROD) | | dbSNP | rs35062810 | Polymorphism | p.SER311THR | N/A | | OMIM | 613012.0001 | Disease | p.ARG390CYS | UROCANASE DEFICIENCY | | OMIM | 613012.0002 | Disease | p.LEU70PRO | UROCANASE 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.
| DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD
21250 | Department of Biological Sciences | Phone: 410-455-2258 |
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HUTU_HUMAN RecName: Full=Urocanate hydratase; Short=Urocanase; AltName: Full=Imidazolonepropionate hydrolase
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