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Known Diseases associated with this Protein: |  CHARCOT-MARIE-TOOTH DISEASE 4H (CMT4H)
| CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H
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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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| Swiss-Prot | VAR_034957 | Polymorphism | p.MET298ARG | N/A | | Swiss-Prot | VAR_044321 | Disease | p.MET298THR | Charcot-Marie-Tooth disease 4H (CMT4H) | | OMIM | 611104.0001 | Disease | p.ARG224TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | | OMIM | 611104.0006 | Disease | p.ARG275TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | | OMIM | 611104.0004 | Disease | p.GLY586TER | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H | | OMIM | 611104.0005 | Disease | p.MET298THR | CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H |
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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116241363
FGD4_HUMAN RecName: Full=FYVE, RhoGEF and PH domain-containing protein 4; AltName: Full=Actin filament-binding protein frabin; AltName: Full=FGD1-related F-actin-binding protein; AltName: Full=Zinc finger FYVE domain-containing protein 6
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4
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