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Known Diseases associated with this Protein: |  DEAFNESS, AUTOSOMAL DOMINANT 15
| DEAFNESS, AUTOSOMAL DOMINANT, 15 (DFNA15)
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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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| HOX | smart00389 | 3.8e-18 | 275 | 330 |
Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_045683 | Disease | p.LEU289PHE | Deafness, autosomal dominant, 15 (DFNA15) | | Swiss-Prot | VAR_045682 | Disease | p.LEU223PRO | Deafness, autosomal dominant, 15 (DFNA15) | | OMIM | 602460.0004 | Disease | p.ARG326LYS | DEAFNESS, AUTOSOMAL DOMINANT 15 | | OMIM | 602460.0002 | Disease | p.LEU298PHE | DEAFNESS, AUTOSOMAL DOMINANT 15 | | OMIM | 602460.0003 | Disease | p.LEU223PRO | DEAFNESS, AUTOSOMAL DOMINANT 15 |
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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2495302
PO4F3_HUMAN RecName: Full=POU domain, class 4, transcription factor 3; AltName: Full=Brain-specific homeobox/POU domain protein 3C; Short=Brain-3C; Short=Brn-3C
5
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3
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