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Known Diseases associated with this Protein: |  EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED (EDMD1)
| EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED
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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 | Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
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Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_038433 | Polymorphism | p.ASP149HIS | N/A | | Swiss-Prot | VAR_016016 | Disease | p.GLN133HIS | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) | | Swiss-Prot | VAR_005199 | Disease | p.PRO183HIS | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) | | Swiss-Prot | VAR_005200 | Disease | p.PRO183THR | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) | | Swiss-Prot | VAR_005198 | Disease | p.SER54PHE | Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) | | OMIM | 300384.0006 | Disease | p.GLN43TER | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | | OMIM | 300384.0002 | Disease | p.MET1VAL | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | | OMIM | 300384.0008 | Disease | p.PRO183HIS | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED | | OMIM | 300384.0009 | Disease | p.PRO183THR | EMERY-DREIFUSS MUSCULAR DYSTROPHY, X-LINKED |
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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1706639
EMD_HUMAN RecName: Full=Emerin
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