|  | 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_065949 | Disease | p.ARG105GLN | Granulomatous disease, chronic, cytochrome-b-positive 3, autosomal recessive (CGD3) | | Swiss-Prot | VAR_034136 | Polymorphism | p.ARG153HIS | N/A | | Swiss-Prot | VAR_009314 | Polymorphism | p.LEU147ILE | N/A | | OMIM | 601488.0002 | Disease | p.ARG105GLN | GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-POSITIVE,||TYPE III |
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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108884815
NCF4_HUMAN RecName: Full=Neutrophil cytosol factor 4; Short=NCF-4; AltName: Full=Neutrophil NADPH oxidase factor 4; AltName: Full=SH3 and PX domain-containing protein 4; AltName: Full=p40-phox; Short=p40phox
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