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Known Diseases associated with this Protein: |  ENCEPHALOPATHY, LETHAL, DUE TO DEFECTIVE MITOCHONDRIAL AND PEROXISOMAL FISSION (EMPF)
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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 Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_063704 | Disease | p.ALA395ASP | Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission (EMPF) | | Swiss-Prot | VAR_030489 | Polymorphism | p.GLU426ASP | N/A | | Swiss-Prot | VAR_022446 | Polymorphism | p.SER71THR | N/A |
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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125987821
DNM1L_HUMAN RecName: Full=Dynamin-1-like protein; AltName: Full=Dnm1p/Vps1p-like protein; Short=DVLP; AltName: Full=Dynamin family member proline-rich carboxyl-terminal domain less; Short=Dymple; AltName: Full=Dynamin-like protein; AltName: Full=Dynamin-like protein 4; AltName: Full=Dynamin-like protein IV; Short=HdynIV; AltName: Full=Dynamin-related protein 1
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