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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_045967 | Disease | p.GLU747GLY | Multiple familial trichoepithelioma 1 (MFT1) | | OMIM | 605018.0002 | Disease | p.ARG758TER | CYLINDROMATOSIS, FAMILIAL | | OMIM | 605018.0008 | Disease | p.ARG936TER | CYLINDROMATOSIS, FAMILIAL||TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1, INCLUDED;;||BROOKE-SPIEGLER SYNDROME, INCLUDED | | OMIM | 605018.0007 | Disease | p.GLU747GLY | TRICHOEPITHELIOMA, MULTIPLE FAMILIAL, 1||BROOKE-SPIEGLER SYNDROME, INCLUDED |
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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51316104
CYLD_HUMAN RecName: Full=Ubiquitin carboxyl-terminal hydrolase CYLD; AltName: Full=Deubiquitinating enzyme CYLD; AltName: Full=Ubiquitin thioesterase CYLD; AltName: Full=Ubiquitin-specific-processing protease CYLD
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