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Known Diseases associated with this Protein: |  LEUKOCYTE ADHESION DEFICIENCY, TYPE III
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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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| OMIM | 607901.0001 | Disease | p.ARG509TER | LEUKOCYTE ADHESION DEFICIENCY, TYPE III | | OMIM | 607901.0006 | Disease | p.ARG513TER | LEUKOCYTE ADHESION DEFICIENCY, TYPE III | | OMIM | 607901.0004 | Disease | p.ARG573TER | LEUKOCYTE ADHESION DEFICIENCY, TYPE III | | OMIM | 607901.0007 | Disease | p.GLY308ARG | LEUKOCYTE ADHESION DEFICIENCY, TYPE III | | OMIM | 607901.0003 | Disease | p.TRP16TER | LEUKOCYTE ADHESION DEFICIENCY, TYPE III | | OMIM | 607901.0005 | Disease | p.TRP229TER | LEUKOCYTE ADHESION DEFICIENCY, TYPE III |
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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41018464
URP2_HUMAN RecName: Full=Fermitin family homolog 3; AltName: Full=Kindlin-3; AltName: Full=MIG2-like protein; AltName: Full=Unc-112-related protein 2
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