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Known Diseases associated with this Protein: | RENAL TUBULAR DYSGENESIS
| RENAL TUBULAR DYSGENESIS (RTD)
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_029207 | Polymorphism | p.ALA244SER | N/A | Swiss-Prot | VAR_029206 | Polymorphism | p.ALA163THR | N/A | Swiss-Prot | VAR_011847 | Polymorphism | p.CYS289TRP | N/A | Swiss-Prot | VAR_070375 | Polymorphism | p.LEU222VAL | N/A | Swiss-Prot | VAR_011846 | Polymorphism | p.LEU48VAL | N/A | Swiss-Prot | VAR_070376 | Polymorphism | p.PRO341HIS | N/A | Swiss-Prot | VAR_035086 | Disease | p.THR282MET | Renal tubular dysgenesis (RTD) | Swiss-Prot | VAR_011848 | Polymorphism | p.THR336PRO | N/A | OMIM | 106165.0006 | Disease | p.ARG91TER | RENAL TUBULAR DYSGENESIS | OMIM | 106165.0004 | Disease | p.THR247MET | RENAL TUBULAR DYSGENESIS | OMIM | 106165.0005 | Disease | p.TRP49TER | RENAL TUBULAR DYSGENESIS |
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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