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Known Diseases associated with this Protein: | EPILEPSY, PYRIDOXINE-DEPENDENT
| PYRIDOXINE-DEPENDENT EPILEPSY (PDE)
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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_031718 | Disease | p.ALA199VAL | Pyridoxine-dependent epilepsy (PDE) | Swiss-Prot | VAR_069187 | Disease | p.ARG335GLN | Pyridoxine-dependent epilepsy (PDE) | Swiss-Prot | VAR_069186 | Disease | p.ASN301ILE | Pyridoxine-dependent epilepsy (PDE) | Swiss-Prot | VAR_031719 | Disease | p.GLU427GLN | Pyridoxine-dependent epilepsy (PDE) | Swiss-Prot | VAR_069185 | Disease | p.GLY291GLU | Pyridoxine-dependent epilepsy (PDE) | Swiss-Prot | VAR_069184 | Disease | p.GLY202VAL | Pyridoxine-dependent epilepsy (PDE) | dbSNP | rs12514417 | Polymorphism | p.LYS439GLN | N/A | Swiss-Prot | VAR_069189 | Disease | p.SER458ASN | Pyridoxine-dependent epilepsy (PDE) | dbSNP | rs2306618 | Polymorphism | p.THR412ALA | N/A | Swiss-Prot | VAR_069188 | Disease | p.VAL395GLY | Pyridoxine-dependent epilepsy (PDE) | OMIM | 107323.0005 | Disease | p.ALA171VAL | EPILEPSY, PYRIDOXINE-DEPENDENT | OMIM | 107323.0002 | Disease | p.ARG82TER | EPILEPSY, PYRIDOXINE-DEPENDENT | OMIM | 107323.0008 | Disease | p.ASN273ILE | EPILEPSY, PYRIDOXINE-DEPENDENT | OMIM | 107323.0001 | Disease | p.GLU399GLN | EPILEPSY, PYRIDOXINE-DEPENDENT | OMIM | 107323.0007 | Disease | p.TYR380TER | EPILEPSY, PYRIDOXINE-DEPENDENT |
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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