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Known Diseases associated with this Protein: |  EPILEPSY, NOCTURNAL FRONTAL LOBE, 1 (ENFL1)
| EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1
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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_023402 | Polymorphism | p.GLU387GLY | N/A | | Swiss-Prot | VAR_017531 | Disease | p.SER280LEU | Epilepsy, nocturnal frontal lobe, 1 (ENFL1) | | Swiss-Prot | VAR_023403 | Polymorphism | p.SER517LEU | N/A | | Swiss-Prot | VAR_000295 | Disease | p.SER280PHE | Epilepsy, nocturnal frontal lobe, 1 (ENFL1) | | OMIM | 118504.0004 | Disease | p.SER252LEU | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 | | OMIM | 118504.0002 | Disease | p.SER252PHE | EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 1 |
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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1351848
ACHA4_HUMAN RecName: Full=Neuronal acetylcholine receptor subunit alpha-4; Flags: Precursor
4
2
2
0
4
