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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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| IRF-3 | pfam10401 | 2.2e-86 | 202 | 382 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_036491 | Polymorphism | p.ALA197THR | N/A | | Swiss-Prot | VAR_036490 | Polymorphism | p.ARG81LYS | N/A | | Swiss-Prot | VAR_070085 | Disease | p.LYS108GLU | IRF8 deficiency, autosomal recessive (IRF8DR) | | Swiss-Prot | VAR_070084 | Disease | p.THR80ALA | IRF8 deficiency, autosomal dominant (IRF8DD) | | OMIM | 601565.0001 | Disease | p.LYS108GLU | MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE | | OMIM | 601565.0002 | Disease | p.THR80ALA | CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL||DOMINANT |
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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6016308
IRF8_HUMAN RecName: Full=Interferon regulatory factor 8; Short=IRF-8; AltName: Full=Interferon consensus sequence-binding protein; Short=H-ICSBP; Short=ICSBP
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