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Known Diseases associated with this Protein: | EPILEPSY, PROGRESSIVE MYOCLONIC 2 (EPM2)
| EPILEPSY, PROGRESSIVE MYOCLONIC 2A
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_019468 | Polymorphism | p.ALA46PRO | N/A | Swiss-Prot | VAR_019472 | Disease | p.ARG108CYS | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019474 | Disease | p.ARG171HIS | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019471 | Disease | p.ARG91PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046384 | Disease | p.ASN148TYR | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019479 | Disease | p.GLN293LEU | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019473 | Polymorphism | p.GLU114ASP | N/A | Swiss-Prot | VAR_046385 | Disease | p.GLU210LYS | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019466 | Disease | p.GLU28LYS | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019477 | Disease | p.GLY240SER | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019478 | Disease | p.GLY279SER | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046386 | Disease | p.LEU310TRP | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046383 | Disease | p.LYS140ASN | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019469 | Disease | p.PHE84LEU | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019470 | Disease | p.PHE88LEU | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019481 | Disease | p.PRO301LEU | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019465 | Disease | p.SER25PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019475 | Disease | p.THR187ALA | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019476 | Disease | p.THR194ILE | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019467 | Disease | p.TRP32GLY | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019480 | Disease | p.TYR294ASN | Epilepsy, progressive myoclonic 2 (EPM2) | OMIM | 607566.0003 | Disease | p.ARG45CYS | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0005 | Disease | p.ARG90HIS | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0006 | Disease | p.ARG160TER | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0001 | Disease | p.ARG168TER | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0008 | Disease | p.ARG241TER | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0007 | Disease | p.GLY198SER | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0002 | Disease | p.GLY216SER | EPILEPSY, PROGRESSIVE MYOCLONIC 2A | OMIM | 607566.0010 | Disease | p.TRP32GLY | EPILEPSY, PROGRESSIVE MYOCLONIC 2A |
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
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