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Known Diseases associated with this Protein: |  DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
| DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL (DIAR5)
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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_063829 | Disease | p.CYS66TYR | Diarrhea 5, with tufting enteropathy, congenital (DIAR5) | | dbSNP | rs1126497 | Polymorphism | p.MET115THR | N/A | | dbSNP | rs74531854 | Polymorphism | p.THR172MET | N/A | | OMIM | 185535.0007 | Disease | p.ARG138TER | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL | | OMIM | 185535.0003 | Disease | p.CYS66TYR | DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL |
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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160266056
EPCAM_HUMAN RecName: Full=Epithelial cell adhesion molecule; Short=Ep-CAM; AltName: Full=Adenocarcinoma-associated antigen; AltName: Full=Cell surface glycoprotein Trop-1; AltName: Full=Epithelial cell surface antigen; AltName: Full=Epithelial glycoprotein; Short=EGP; AltName: Full=Epithelial glycoprotein 314; Short=EGP314; Short=hEGP314; AltName: Full=KS 1/4 antigen; AltName: Full=KSA; AltName: Full=Major gastrointestinal tumor-associated protein GA733-2; AltName: Full=Tumor-associated calcium signal transducer 1; AltName: CD_antigen=CD326; Flags: Precursor
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