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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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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_043152 | Polymorphism | p.ARG220CYS | N/A | | Swiss-Prot | VAR_043153 | Polymorphism | p.ARG220HIS | N/A | | Swiss-Prot | VAR_043151 | Disease | p.GLU177ALA | Generalized epilepsy with febrile seizures plus 5 (GEFS+5) | | OMIM | 137163.0002 | Disease | p.ARG220HIS | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY||TO||EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIB | | OMIM | 137163.0001 | Disease | p.GLU177ALA | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 5, SUSCEPTIBILITY||TO |
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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59802571
GBRD_HUMAN RecName: Full=Gamma-aminobutyric acid receptor subunit delta; AltName: Full=GABA(A) receptor subunit delta; Flags: Precursor
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