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Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, INCLUDED
| SEIZURES, BENIGN FAMILIAL NEONATAL, 1
| SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA
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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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| dbSNP | rs1801475 | Polymorphism | p.ASN752THR | N/A | | dbSNP | rs117067974 | Polymorphism | p.GLU487ASP | N/A | | OMIM | 602235.0002 | Disease | p.ALA306THR | SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | | OMIM | 602235.0011 | Disease | p.ARG207GLN | SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA | | OMIM | 602235.0012 | Disease | p.ARG213GLN | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | | OMIM | 602235.0006 | Disease | p.ARG207TRP | SEIZURES, BENIGN FAMILIAL NEONATAL, 1, AND/OR MYOKYMIA | | OMIM | 602235.0005 | Disease | p.ARG214TRP | SEIZURES, BENIGN FAMILIAL NEONATAL, 1 | | OMIM | 602235.0014 | Disease | p.GLY290ASP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | | OMIM | 602235.0007 | Disease | p.LYS498ASN | SEIZURES, BENIGN FAMILIAL NEONATAL, 1||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, INCLUDED | | OMIM | 602235.0013 | Disease | p.MET518VAL | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | | OMIM | 602235.0008 | Disease | p.SER247TRP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 | | OMIM | 602235.0001 | Disease | p.TYR284CYS | SEIZURES, BENIGN FAMILIAL NEONATAL, 1 |
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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26051260
potassium voltage-gated channel subfamily KQT member 2 isoform c [Homo sapiens]
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