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Known Diseases associated with this Protein: |  EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI
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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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| DEP | smart00049 | 1.6e-19 | 1156 | 1231 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs16989495 | Polymorphism | p.ASN295LYS | N/A | | dbSNP | rs16989535 | Polymorphism | p.GLY712VAL | N/A | | dbSNP | rs8138516 | Polymorphism | p.LEU491PRO | N/A | | OMIM | 614191.0006 | Disease | p.ARG239TER | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI | | OMIM | 614191.0007 | Disease | p.ARG328TER | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI | | OMIM | 614191.0002 | Disease | p.ARG555TER | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI | | OMIM | 614191.0004 | Disease | p.TRP1338TER | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI | | OMIM | 614191.0001 | Disease | p.TYR7TER | EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI |
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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7662222
DEP domain-containing protein 5 isoform 1 [Homo sapiens]
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