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Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7 (EIEE7)
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, INCLUDED
| SEIZURES, BENIGN FAMILIAL NEONATAL 1 (BFNS1)
| 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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| Swiss-Prot | VAR_010931 | Disease | p.ALA306THR | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_043819 | Polymorphism | p.ARG207GLN | N/A | | Swiss-Prot | VAR_026992 | Disease | p.ARG333GLN | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_026987 | Disease | p.ARG207TRP | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_010929 | Disease | p.ARG214TRP | Seizures, benign familial neonatal 1 (BFNS1) | | dbSNP | rs1801475 | Polymorphism | p.ASN780THR | N/A | | dbSNP | rs117067974 | Polymorphism | p.GLU515ASP | N/A | | Swiss-Prot | VAR_026989 | Disease | p.HIS228GLN | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_026990 | Disease | p.LEU243PHE | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_026993 | Disease | p.LYS554ASN | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_026988 | Disease | p.MET208VAL | Seizures, benign familial neonatal 1 (BFNS1) | | Swiss-Prot | VAR_026991 | Disease | p.SER247TRP | Epileptic encephalopathy, early infantile, 7 (EIEE7) | | Swiss-Prot | VAR_010930 | Disease | p.TYR284CYS | Seizures, benign familial neonatal 1 (BFNS1) | | 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.LYS526ASN | SEIZURES, BENIGN FAMILIAL NEONATAL, 1||EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7, INCLUDED | | OMIM | 602235.0013 | Disease | p.MET546VAL | 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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14285389
KCNQ2_HUMAN RecName: Full=Potassium voltage-gated channel subfamily KQT member 2; AltName: Full=KQT-like 2; AltName: Full=Neuroblastoma-specific potassium channel subunit alpha KvLQT2; AltName: Full=Voltage-gated potassium channel subunit Kv7.2
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