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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 ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_007900 | Disease | p.ALA337PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042456 | Disease | p.ALA357PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_007901 | Disease | p.ALA360PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042451 | Polymorphism | p.ALA213VAL | N/A | Swiss-Prot | VAR_042454 | Disease | p.ARG350PRO | Neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) | Swiss-Prot | VAR_042455 | Disease | p.ARG355PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042458 | Disease | p.ARG406TRP | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042462 | Disease | p.ARG454TRP | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042453 | Disease | p.ASN342ASP | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_007902 | Disease | p.ASN393ILE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_069191 | Disease | p.ASN116SER | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_067210 | Disease | p.ASP399TYR | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_018772 | Disease | p.GLN389PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042452 | Disease | p.GLU245ASP | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_067211 | Disease | p.GLU401LYS | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_018773 | Disease | p.ILE451MET | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_067209 | Disease | p.LEU338ARG | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_009189 | Disease | p.LEU345PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042457 | Disease | p.LEU370PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_018771 | Disease | p.LEU385PRO | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_069192 | Polymorphism | p.LYS241GLU | N/A | Swiss-Prot | VAR_042460 | Disease | p.LYS449MET | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042461 | Disease | p.LYS449THR | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_069074 | Disease | p.PRO419SER | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042448 | Disease | p.SER2ILE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042463 | Disease | p.SER460ILE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_067208 | Disease | p.SER13PHE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042449 | Disease | p.SER46PHE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_067207 | Disease | p.SER7PHE | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042450 | Disease | p.SER46TYR | Myopathy, myofibrillar, 1 (MFM1) | Swiss-Prot | VAR_042459 | Disease | p.THR442ILE | Myopathy, myofibrillar, 1 (MFM1) | OMIM | 125660.0001 | Disease | p.ALA337PRO | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0002 | Disease | p.ALA360PRO | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0016 | Disease | p.ARG350PRO | SCAPULOPERONEAL SYNDROME, NEUROGENIC, KAESER TYPE | OMIM | 125660.0007 | Disease | p.ARG406TRP | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0003 | Disease | p.ASN393ILE | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0011 | Disease | p.GLN389PRO | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0005 | Disease | p.ILE451MET | CARDIOMYOPATHY, DILATED, 1I | OMIM | 125660.0006 | Disease | p.LEU345PRO | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0010 | Disease | p.LEU385PRO | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0017 | Disease | p.PRO419SER | MYOPATHY, MYOFIBRILLAR, 1 | OMIM | 125660.0015 | Disease | p.THR442ILE | MYOPATHY, MYOFIBRILLAR, 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.
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