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Known Diseases associated with this Protein: |  SPONDYLOCOSTAL DYSOSTOSIS 3 (SCDO3)
| SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE
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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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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_046785 | Polymorphism | p.GLY38ARG | N/A | | Swiss-Prot | VAR_025850 | Disease | p.PHE188LEU | Spondylocostal dysostosis 3 (SCDO3) | | Swiss-Prot | VAR_046786 | Polymorphism | p.VAL346MET | N/A | | OMIM | 602576.0001 | Disease | p.PHE188LEU | SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE |
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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27734417
LFNG_HUMAN RecName: Full=Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe; AltName: Full=O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
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