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Known Diseases associated with this Protein: |  EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2
| FEBRILE SEIZURES, FAMILIAL, 8
| FEBRILE SEIZURES, FAMILIAL, 8 (FEB8)
| FEBRILE SEIZURES, FAMILIAL, 8, INCLUDED
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS 3 (GEFS+3)
| GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
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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_014265 | Disease | p.ARG82GLN | Febrile seizures, familial, 8 (FEB8) | | Swiss-Prot | VAR_038602 | Disease | p.ARG177GLY | Febrile seizures, familial, 8 (FEB8) | | Swiss-Prot | VAR_065226 | Polymorphism | p.ASN79SER | N/A | | Swiss-Prot | VAR_065163 | Polymorphism | p.HIS357ARG | N/A | | Swiss-Prot | VAR_014266 | Disease | p.LYS328MET | Generalized epilepsy with febrile seizures plus 3 (GEFS+3) | | OMIM | 137164.0006 | Disease | p.ARG283GLN | 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.GLN311TER | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3 | | OMIM | 137164.0001 | Disease | p.LYS249MET | 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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116242488
GBRG2_HUMAN RecName: Full=Gamma-aminobutyric acid receptor subunit gamma-2; AltName: Full=GABA(A) receptor subunit gamma-2; Flags: Precursor
8
2
5
0
5
