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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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| dbSNP | rs1800280 | Polymorphism | p.ARG208GLN | N/A | | dbSNP | rs1800278 | Polymorphism | p.ASN183ASP | N/A | | OMIM | 300377.0070 | Disease | p.ALA692VAL | BECKER MUSCULAR DYSTROPHY | | OMIM | 300377.0082 | Disease | p.ARG176TER | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0005 | Disease | p.ARG253TER | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0076 | Disease | p.ARG461TER | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0007 | Disease | p.ARG641TER | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0067 | Disease | p.ARG652TER | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0062 | Disease | p.ASN183ASP | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0026 | Disease | p.CYS611TYR | DUCHENNE MUSCULAR DYSTROPHY, MENTAL RETARDATION, AND ABSENCE OF ERG||B-WAVE | | OMIM | 300377.0061 | Disease | p.GLU181VAL | DUCHENNE MUSCULAR DYSTROPHY | | OMIM | 300377.0063 | Disease | p.HIS192ARG | BECKER MUSCULAR DYSTROPHY | | OMIM | 300377.0064 | Disease | p.SER337TER | DUCHENNE MUSCULAR DYSTROPHY |
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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5032295
dystrophin Dp116 isoform [Homo sapiens]
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2
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