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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| dbSNP | rs211035 | Polymorphism | p.ILE215VAL | N/A | | OMIM | 137164.0006 | Disease | p.ARG323GLN | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 | | OMIM | 137164.0002 | Disease | p.ARG43GLN | EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2||FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED | | OMIM | 137164.0005 | Disease | p.ARG139GLY | FEBRILE SEIZURES, FAMILIAL, 8 | | OMIM | 137164.0003 | Disease | p.GLN351TER | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 | | OMIM | 137164.0001 | Disease | p.LYS289MET | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 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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189083762
gamma-aminobutyric acid receptor subunit gamma-2 isoform 3 precursor [Homo sapiens]
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