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Known Diseases associated with this Protein: |  EPILEPSY, PROGRESSIVE MYOCLONIC 5
| EPILEPSY, PROGRESSIVE MYOCLONIC 5 (EPM5)
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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_065582 | Disease | p.ARG148HIS | Epilepsy, progressive myoclonic 5 (EPM5) | | Swiss-Prot | VAR_065583 | Disease | p.VAL153ILE | Epilepsy, progressive myoclonic 5 (EPM5) | | Swiss-Prot | VAR_065584 | Disease | p.VAL605PHE | Epilepsy, progressive myoclonic 5 (EPM5) | | OMIM | 608501.0001 | Disease | p.ARG148HIS | EPILEPSY, PROGRESSIVE MYOCLONIC 5 | | OMIM | 608501.0001 | Disease | p.VAL153ILE | EPILEPSY, PROGRESSIVE MYOCLONIC 5 | | OMIM | 608501.0002 | Disease | p.VAL605PHE | EPILEPSY, PROGRESSIVE MYOCLONIC 5 |
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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85701877
PRIC2_HUMAN RecName: Full=Prickle-like protein 2; Flags: Precursor
6
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3
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3
