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Known Diseases associated with this Protein: |  SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
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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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| OMIM | 164780.0003 | Disease | p.GLY34ASP | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0005 | Disease | p.GLY34CYS | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0001 | Disease | p.GLY116GLU | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0004 | Disease | p.GLY34SER | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0007 | Disease | p.GLY34VAL | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0002 | Disease | p.LEU32VAL | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0009 | Disease | p.PRO35GLN | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME | | OMIM | 164780.0010 | Disease | p.PRO35SER | SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME |
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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134517
SKI_HUMAN RecName: Full=Ski oncogene; AltName: Full=Proto-oncogene c-Ski
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