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Known Diseases associated with this Protein: | HYPOURICEMIA RENAL 2 (RHUC2)
| HYPOURICEMIA, RENAL, 2
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065774 | Disease | p.ARG171CYS | Hypouricemia renal 2 (RHUC2) | Swiss-Prot | VAR_065775 | Disease | p.ARG198CYS | Hypouricemia renal 2 (RHUC2) | dbSNP | rs3733591 | Polymorphism | p.ARG294HIS | N/A | Swiss-Prot | VAR_045653 | Polymorphism | p.ARG300HIS | N/A | Swiss-Prot | VAR_065776 | Disease | p.ARG380TRP | Hypouricemia renal 2 (RHUC2) | Swiss-Prot | VAR_045652 | Polymorphism | p.ASP281HIS | N/A | Swiss-Prot | VAR_045649 | Polymorphism | p.GLU191ASP | N/A | Swiss-Prot | VAR_045650 | Polymorphism | p.GLY216ARG | N/A | dbSNP | rs2276961 | Polymorphism | p.GLY25ARG | N/A | Swiss-Prot | VAR_065772 | Disease | p.LEU75ARG | Hypouricemia renal 2 (RHUC2) | dbSNP | rs2280205 | Polymorphism | p.PRO350LEU | N/A | Swiss-Prot | VAR_045648 | Polymorphism | p.SER22ASN | N/A | Swiss-Prot | VAR_065773 | Disease | p.THR125MET | Hypouricemia renal 2 (RHUC2) | Swiss-Prot | VAR_045651 | Polymorphism | p.THR275MET | N/A | dbSNP | rs16890979 | Polymorphism | p.VAL282ILE | N/A | OMIM | 606142.0005 | Disease | p.ARG198CYS | HYPOURICEMIA, RENAL, 2 | OMIM | 606142.0004 | Disease | p.ARG380TRP | HYPOURICEMIA, RENAL, 2 | OMIM | 606142.0006 | Disease | p.PRO412ARG | HYPOURICEMIA, RENAL, 2 |
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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