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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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dbSNP | rs12115566 | Polymorphism | p.ALA565VAL | N/A | dbSNP | rs11243406 | Polymorphism | p.ASP357GLU | N/A | dbSNP | rs4740164 | Polymorphism | p.VAL251ILE | N/A | OMIM | 607423.0005 | Disease | p.ALA146PRO | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | OMIM | 607423.0013 | Disease | p.ALA593THR | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | OMIM | 607423.0008 | Disease | p.ARG438TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | OMIM | 607423.0011 | Disease | p.ARG465TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | OMIM | 607423.0019 | Disease | p.ASN90ASP | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | OMIM | 607423.0009 607423.0012 | Disease | p.GLN514HIS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | OMIM | 607423.0002 | Disease | p.GLN227TER | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1 | OMIM | 607423.0006 607423.0010 | Disease | p.GLY11ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 | OMIM | 607423.0001 | Disease | p.GLY22ARG | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH EYE AND BRAIN||ANOMALIES), TYPE A, 1 | OMIM | 607423.0020 | Disease | p.THR338MET | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 1 | OMIM | 607423.0007 | Disease | p.TRP506CYS | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 1 |
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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