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Known Diseases associated with this Protein: |  FANCONI ANEMIA, COMPLEMENTATION GROUP E
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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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| dbSNP | rs9462088 | Polymorphism | p.ALA502THR | N/A | | Swiss-Prot | VAR_023375 | Polymorphism | p.ARG343GLN | N/A | | Swiss-Prot | VAR_023372 | Polymorphism | p.ARG89LEU | N/A | | Swiss-Prot | VAR_023374 | Polymorphism | p.GLY340ARG | N/A | | Swiss-Prot | VAR_038022 | Polymorphism | p.PRO184GLN | N/A | | dbSNP | rs7761870 | Polymorphism | p.SER204LEU | N/A | | OMIM | 613976.0002 | Disease | p.ARG141TER | FANCONI ANEMIA, COMPLEMENTATION GROUP E | | OMIM | 613976.0001 | Disease | p.GLN119TER | FANCONI ANEMIA, COMPLEMENTATION GROUP E |
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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45476978
FANCE_HUMAN RecName: Full=Fanconi anemia group E protein; Short=Protein FACE
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