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Known Diseases associated with this Protein: |  ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3 (IIAE3)
| ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
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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_023939 | Polymorphism | p.ARG784LYS | N/A | | Swiss-Prot | VAR_029767 | Polymorphism | p.CYS581TYR | N/A | | Swiss-Prot | VAR_029766 | Polymorphism | p.GLU580LYS | N/A | | Swiss-Prot | VAR_054999 | Disease | p.ILE656VAL | Encephalopathy, acute, infection-induced, 3 (IIAE3) | | Swiss-Prot | VAR_014886 | Polymorphism | p.PRO1892ALA | N/A | | Swiss-Prot | VAR_050576 | Polymorphism | p.PRO1892ARG | N/A | | Swiss-Prot | VAR_029768 | Polymorphism | p.PRO1870LEU | N/A | | dbSNP | rs17414315 | Polymorphism | p.SER725GLY | N/A | | Swiss-Prot | VAR_054998 | Disease | p.THR653ILE | Encephalopathy, acute, infection-induced, 3 (IIAE3) | | Swiss-Prot | VAR_054997 | Disease | p.THR585MET | Encephalopathy, acute, infection-induced, 3 (IIAE3) | | Swiss-Prot | VAR_029765 | Polymorphism | p.VAL548LEU | N/A | | OMIM | 601181.0003 | Disease | p.ILE656VAL | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | | OMIM | 601181.0002 | Disease | p.THR653ILE | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 | | OMIM | 601181.0001 | Disease | p.THR585MET | ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 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 |
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83305554
RBP2_HUMAN RecName: Full=E3 SUMO-protein ligase RanBP2; AltName: Full=358 kDa nucleoporin; AltName: Full=Nuclear pore complex protein Nup358; AltName: Full=Nucleoporin Nup358; AltName: Full=Ran-binding protein 2; Short=RanBP2; AltName: Full=p270
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