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Known Diseases associated with this Protein: |  GELATINOUS DROP-LIKE CORNEAL DYSTROPHY
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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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| dbSNP | rs35075952 | Polymorphism | p.ASP173ALA | N/A | | dbSNP | rs14008 | Polymorphism | p.ASP216GLU | N/A | | dbSNP | rs1062964 | Polymorphism | p.GLU147ASP | N/A | | dbSNP | rs114373153 | Polymorphism | p.ILE297VAL | N/A | | OMIM | 137290.0006 | Disease | p.CYS119SER | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | | OMIM | 137290.0001 | Disease | p.GLN118TER | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | | OMIM | 137290.0002 | Disease | p.GLN207TER | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | | OMIM | 137290.0008 | Disease | p.LEU186PRO | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY | | OMIM | 137290.0003 | Disease | p.SER170TER | GELATINOUS DROP-LIKE CORNEAL DYSTROPHY |
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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160113102
TACD2_HUMAN RecName: Full=Tumor-associated calcium signal transducer 2; AltName: Full=Cell surface glycoprotein Trop-2; AltName: Full=Membrane component chromosome 1 surface marker 1; AltName: Full=Pancreatic carcinoma marker protein GA733-1; Flags: Precursor
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