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Known Diseases associated with this Protein: |  SPONDYLOCOSTAL DYSOSTOSIS 4
| SPONDYLOCOSTAL DYSOSTOSIS 4 (SCDO4)
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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_064921 | Disease | p.ARG25TRP | Spondylocostal dysostosis 4 (SCDO4) | | Swiss-Prot | VAR_064923 | Disease | p.ASP186TYR | Spondylocostal dysostosis 4 (SCDO4) | | Swiss-Prot | VAR_064922 | Disease | p.ILE58VAL | Spondylocostal dysostosis 4 (SCDO4) | | OMIM | 608059.0001 | Disease | p.ARG25TRP | SPONDYLOCOSTAL DYSOSTOSIS 4 | | OMIM | 608059.0002 | Disease | p.ASP181TYR | SPONDYLOCOSTAL DYSOSTOSIS 4 | | OMIM | 608059.0003 | Disease | p.ILE58VAL | SPONDYLOCOSTAL DYSOSTOSIS 4 |
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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296434525
HES7_HUMAN RecName: Full=Transcription factor HES-7; Short=hHes7; AltName: Full=Class B basic helix-loop-helix protein 37; Short=bHLHb37; AltName: Full=Hairy and enhancer of split 7; AltName: Full=bHLH factor Hes7
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