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Known Diseases associated with this Protein: |  DEAFNESS, X-LINKED, 2 (DFNX2)
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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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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_003782 | Disease | p.ALA312VAL | Deafness, X-linked, 2 (DFNX2) | | Swiss-Prot | VAR_003784 | Disease | p.ARG323GLY | Deafness, X-linked, 2 (DFNX2) | | Swiss-Prot | VAR_003785 | Disease | p.ARG330SER | Deafness, X-linked, 2 (DFNX2) | | Swiss-Prot | VAR_067431 | Polymorphism | p.GLY237ALA | N/A | | Swiss-Prot | VAR_003783 | Disease | p.LEU317TRP | Deafness, X-linked, 2 (DFNX2) | | Swiss-Prot | VAR_003786 | Disease | p.LYS334GLU | Deafness, X-linked, 2 (DFNX2) |
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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77416874
PO3F4_HUMAN RecName: Full=POU domain, class 3, transcription factor 4; AltName: Full=Brain-specific homeobox/POU domain protein 4; Short=Brain-4; Short=Brn-4; AltName: Full=Octamer-binding protein 9; Short=Oct-9; AltName: Full=Octamer-binding transcription factor 9; Short=OTF-9
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