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Known Diseases associated with this Protein: | EPILEPSY, PROGRESSIVE MYOCLONIC 2 (EPM2)
| EPILEPSY, PROGRESSIVE MYOCLONIC 2B
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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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_046397 | Disease | p.ARG253LYS | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046395 | Disease | p.ASP233ALA | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046401 | Disease | p.ASP308ALA | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019487 | Disease | p.ASP146ASN | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046396 | Disease | p.ASP245ASN | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046392 | Disease | p.CYS160ARG | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019482 | Disease | p.CYS26SER | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046389 | Disease | p.CYS68TYR | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019488 | Disease | p.GLN302PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046388 | Disease | p.GLU67GLN | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046393 | Disease | p.ILE198ASN | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046391 | Disease | p.ILE153MET | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046390 | Disease | p.LEU126PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046399 | Disease | p.LEU279PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019485 | Disease | p.LEU87PRO | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019483 | Disease | p.PHE33SER | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_019484 | Disease | p.PRO69ALA | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046398 | Disease | p.PRO264HIS | Epilepsy, progressive myoclonic 2 (EPM2) | dbSNP | rs10949483 | Polymorphism | p.PRO111LEU | N/A | Swiss-Prot | VAR_046387 | Disease | p.SER22ARG | Epilepsy, progressive myoclonic 2 (EPM2) | Swiss-Prot | VAR_046394 | Disease | p.TRP219ARG | Epilepsy, progressive myoclonic 2 (EPM2) | OMIM | 608072.0005 | Disease | p.ARG265TER | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | OMIM | 608072.0007 | Disease | p.ASP308ALA | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | OMIM | 608072.0001 | Disease | p.CYS26SER | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | OMIM | 608072.0006 | Disease | p.ILE198ASN | EPILEPSY, PROGRESSIVE MYOCLONIC 2B | OMIM | 608072.0002 | Disease | p.PRO69ALA | EPILEPSY, PROGRESSIVE MYOCLONIC 2B |
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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