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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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| ig | pfam00047 | 2.6e-21 | 33 | 123 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_070219 | Disease | p.ARG85HIS | Atrial fibrillation, familial, 13 (ATFB13) | | Swiss-Prot | VAR_067341 | Disease | p.ARG125LEU | Generalized epilepsy with febrile seizures plus 1 (GEFS+1) | | Swiss-Prot | VAR_070220 | Disease | p.ASP153ASN | Atrial fibrillation, familial, 13 (ATFB13) | | Swiss-Prot | VAR_062523 | Polymorphism | p.ASP25ASN | N/A | | Swiss-Prot | VAR_010165 | Disease | p.CYS121TRP | Generalized epilepsy with febrile seizures plus 1 (GEFS+1) | | Swiss-Prot | VAR_062527 | Polymorphism | p.CYS211TYR | N/A | | Swiss-Prot | VAR_062524 | Polymorphism | p.GLU87GLN | N/A | | Swiss-Prot | VAR_062528 | Polymorphism | p.GLY213ASP | N/A | | Swiss-Prot | VAR_062526 | Polymorphism | p.LYS208ILE | N/A | | Swiss-Prot | VAR_062525 | Polymorphism | p.VAL138ILE | N/A | | OMIM | 600235.0006 | Disease | p.ARG85HIS | ATRIAL FIBRILLATION, FAMILIAL, 13 | | OMIM | 600235.0001 | Disease | p.CYS121TRP | GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 | | OMIM | 600235.0004 | Disease | p.GLU87GLN | CARDIAC CONDUCTION DEFECT, NONSPECIFIC |
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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1705868
SCN1B_HUMAN RecName: Full=Sodium channel subunit beta-1; Flags: Precursor
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