|
|
|
|
Known Diseases associated with this Protein: | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 (EIEE2)
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_041997 | Polymorphism | p.ALA374THR | N/A | Swiss-Prot | VAR_058022 | Disease | p.ALA40VAL | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_058031 | Polymorphism | p.ARG444CYS | N/A | Swiss-Prot | VAR_058033 | Polymorphism | p.ARG923CYS | N/A | Swiss-Prot | VAR_058026 | Disease | p.ARG178PRO | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_023561 | Disease | p.ARG175SER | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_036578 | Polymorphism | p.ASN368HIS | N/A | Swiss-Prot | VAR_058030 | Disease | p.ASN399THR | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_023560 | Disease | p.CYS152PHE | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_058029 | Disease | p.CYS291TYR | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_023562 | Polymorphism | p.GLN791PRO | N/A | Swiss-Prot | VAR_042000 | Polymorphism | p.GLU1023GLY | N/A | Swiss-Prot | VAR_058025 | Disease | p.HIS127ARG | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_058023 | Disease | p.ILE72ASN | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_058024 | Disease | p.ILE72THR | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_058027 | Disease | p.LEU220PRO | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_041998 | Polymorphism | p.PRO574GLN | N/A | Swiss-Prot | VAR_037635 | Disease | p.PRO180LEU | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_041999 | Polymorphism | p.THR734ALA | N/A | Swiss-Prot | VAR_058028 | Disease | p.THR288ILE | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_037636 | Polymorphism | p.VAL793ALA | N/A | Swiss-Prot | VAR_058032 | Disease | p.VAL718MET | Epileptic encephalopathy, early infantile, 2 (EIEE2) | Swiss-Prot | VAR_037637 | Polymorphism | p.VAL999MET | N/A | OMIM | 300203.0009 | Disease | p.ALA40VAL | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0014 | Disease | p.ARG178PRO | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0004 | Disease | p.ARG175SER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0003 | Disease | p.CYS152PHE | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0012 | Disease | p.CYS291TYR | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0007 | Disease | p.GLN834TER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0010 | Disease | p.ILE72THR | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 | OMIM | 300203.0011 | Disease | p.THR288ILE | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2 |
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 |
|