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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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Swiss-Prot | VAR_022661 | Disease | p.ALA200PRO | Muscular dystrophy-dystroglycanopathy limb-girdle C1 (MDDGC1) | Swiss-Prot | VAR_065036 | Disease | p.ALA669THR | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | Swiss-Prot | VAR_065028 | Disease | p.ARG105CYS | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | Swiss-Prot | VAR_065029 | Disease | p.ARG105HIS | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | Swiss-Prot | VAR_065033 | Polymorphism | p.ARG522LYS | N/A | Swiss-Prot | VAR_034392 | Polymorphism | p.ASP433GLU | N/A | Swiss-Prot | VAR_034390 | Polymorphism | p.GLN251ARG | N/A | Swiss-Prot | VAR_065035 | Disease | p.GLN590HIS | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | Swiss-Prot | VAR_034389 | Polymorphism | p.GLN251TRP | N/A | Swiss-Prot | VAR_065027 | Disease | p.GLY65ARG | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | Swiss-Prot | VAR_015734 | Disease | p.GLY76ARG | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | Swiss-Prot | VAR_065031 | Disease | p.GLY207VAL | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | Swiss-Prot | VAR_065032 | Polymorphism | p.LEU285PHE | N/A | Swiss-Prot | VAR_026697 | Disease | p.SER537ARG | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | Swiss-Prot | VAR_065034 | Disease | p.TRP582CYS | Muscular dystrophy-dystroglycanopathy congenital with mental retardation B1 (MDDGB1) | Swiss-Prot | VAR_015735 | Disease | p.VAL428ASP | Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1 (MDDGA1) | Swiss-Prot | VAR_034391 | Polymorphism | p.VAL327ILE | N/A |
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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