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Known Diseases associated with this Protein: |  EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (1 FAMILY)
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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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| dbSNP | rs76186865 | Polymorphism | p.CYS18PHE | N/A | | dbSNP | rs34994230 | Polymorphism | p.ILE282VAL | N/A | | dbSNP | rs35548455 | Polymorphism | p.PRO34LEU | N/A | | dbSNP | rs10485183 | Polymorphism | p.THR25ILE | N/A | | dbSNP | rs41313440 | Polymorphism | p.VAL381ALA | N/A | | OMIM | 605942.0001 | Disease | p.SER268LEU | EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 2 (1 family) |
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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74762778
DSE_HUMAN RecName: Full=Dermatan-sulfate epimerase; Short=DS epimerase; AltName: Full=Chondroitin-glucuronate 5-epimerase; AltName: Full=Squamous cell carcinoma antigen recognized by T-cells 2; Short=SART-2; Flags: Precursor
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