|
|
|---|
 |
|
Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 (EIEE3)
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| dbSNP | rs111277421 | Polymorphism | p.LEU150VAL | N/A | | Swiss-Prot | VAR_022737 | Disease | p.PRO206LEU | Epileptic encephalopathy, early infantile, 3 (EIEE3) | | OMIM | 609302.0002 | Disease | p.GLY236TRP | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3 | | OMIM | 609302.0001 | Disease | p.PRO206LEU | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 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 |
|
34222632
GHC1_HUMAN RecName: Full=Mitochondrial glutamate carrier 1; Short=GC-1; AltName: Full=Glutamate/H(+) symporter 1; AltName: Full=Solute carrier family 25 member 22
3
1
2
1
1
