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Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 (EIEE13)
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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_067539 | Disease | p.ASN1768ASP | Epileptic encephalopathy, early infantile, 13 (EIEE13) | | OMIM | 600702.0002 | Disease | p.ASN1768ASP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 | | OMIM | 600702.0003 | Disease | p.LEU1290VAL | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13 |
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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34098756
SCN8A_HUMAN RecName: Full=Sodium channel protein type 8 subunit alpha; AltName: Full=Sodium channel protein type VIII subunit alpha; AltName: Full=Voltage-gated sodium channel subunit alpha Nav1.6
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