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Known Diseases associated with this Protein: |  EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8
| EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 (EIEE8)
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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_069370 | Polymorphism | p.GLU401LYS | N/A | | Swiss-Prot | VAR_028752 | Disease | p.GLY55ALA | Epileptic encephalopathy, early infantile, 8 (EIEE8) | | OMIM | 300429.0002 | Disease | p.GLN2TER | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 | | OMIM | 300429.0001 | Disease | p.GLY55ALA | EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 8 |
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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116243005
ARHG9_HUMAN RecName: Full=Rho guanine nucleotide exchange factor 9; AltName: Full=Collybistin; AltName: Full=PEM-2 homolog; AltName: Full=Rac/Cdc42 guanine nucleotide exchange factor 9
3
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0
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