Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D
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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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Domains found on the Protein | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_050235 | Polymorphism | p.MET111LEU | N/A | | dbSNP | rs2233319 | Polymorphism | p.MET67VAL | N/A | | OMIM | 605262.0001 | Disease | p.ARG148TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D |
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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6166568
NDRG1_HUMAN RecName: Full=Protein NDRG1; AltName: Full=Differentiation-related gene 1 protein; Short=DRG-1; AltName: Full=N-myc downstream-regulated gene 1 protein; AltName: Full=Nickel-specific induction protein Cap43; AltName: Full=Reducing agents and tunicamycin-responsive protein; Short=RTP; AltName: Full=Rit42
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