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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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Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | 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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