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Known Diseases associated with this Protein: |  EPILEPSY, NOCTURNAL FRONTAL LOBE, 3
| EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 (ENFL3)
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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_021564 | Polymorphism | p.GLN397HIS | N/A | | dbSNP | rs200729328 | Polymorphism | p.VAL33GLY | N/A | | Swiss-Prot | VAR_012714 | Disease | p.VAL287LEU | Epilepsy, nocturnal frontal lobe, 3 (ENFL3) | | Swiss-Prot | VAR_012715 | Disease | p.VAL287MET | Epilepsy, nocturnal frontal lobe, 3 (ENFL3) | | OMIM | 118507.0001 | Disease | p.VAL287LEU | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 | | OMIM | 118507.0002 | Disease | p.VAL287MET | EPILEPSY, NOCTURNAL FRONTAL LOBE, 3 |
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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113105
ACHB2_HUMAN RecName: Full=Neuronal acetylcholine receptor subunit beta-2; Flags: Precursor
4
2
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1
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