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Known Diseases associated with this Protein: |  VARIANT OF UNKNOWN SIGNIFICANCE
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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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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_020022 | Polymorphism | p.ALA157PRO | N/A | | dbSNP | rs115648137 | Polymorphism | p.ARG3201GLN | N/A | | dbSNP | rs61729240 | Polymorphism | p.ASP3302HIS | N/A | | dbSNP | rs12107252 | Polymorphism | p.GLN1758ARG | N/A | | dbSNP | rs3821875 | Polymorphism | p.SER805THR | N/A | | OMIM | 604264.0001 | Disease | p.MET2630ILE | VARIANT OF UNKNOWN SIGNIFICANCE |
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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229462826
CELR3_HUMAN RecName: Full=Cadherin EGF LAG seven-pass G-type receptor 3; AltName: Full=Cadherin family member 11; AltName: Full=Epidermal growth factor-like protein 1; Short=EGF-like protein 1; AltName: Full=Flamingo homolog 1; Short=hFmi1; AltName: Full=Multiple epidermal growth factor-like domains protein 2; Short=Multiple EGF-like domains protein 2; Flags: Precursor
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