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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_031754 | Polymorphism | p.ALA318VAL | N/A | | Swiss-Prot | VAR_069794 | Disease | p.GLU85LYS | Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) | | Swiss-Prot | VAR_069795 | Disease | p.ILE91VAL | Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) | | dbSNP | rs4685076 | Polymorphism | p.LYS168ASN | N/A | | dbSNP | rs2340917 | Polymorphism | p.MET179THR | N/A | | Swiss-Prot | VAR_044438 | Disease | p.SER358LEU | Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) | | Swiss-Prot | VAR_031753 | Polymorphism | p.TYR233CYS | N/A | | OMIM | 612048.0004 | Disease | p.ALA57THR | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 | | OMIM | 612048.0002 | Disease | p.GLU85LYS | EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | | OMIM | 612048.0003 | Disease | p.ILE91VAL | EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT | | OMIM | 612048.0001 | Disease | p.SER358LEU | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 |
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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74733151
TMM43_HUMAN RecName: Full=Transmembrane protein 43; AltName: Full=Protein LUMA
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