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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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OMIM | 602378.0004 | Disease | p.ARG369GLN | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0005 | Disease | p.ARG369TRP | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0006 | Disease | p.ARG465TRP | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0007 | Disease | p.GLU368LYS | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0012 | Disease | p.GLY358ARG | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0008 | Disease | p.GLY529CYS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0009 | Disease | p.LEU562HIS | CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M | OMIM | 602378.0002 | Disease | p.LYS554GLU | CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA | OMIM | 602378.0013 | Disease | p.PHE379VAL | LETHAL CONGENITAL CONTRACTURE SYNDROME 5 (1 family) | OMIM | 602378.0010 | Disease | p.SER615LEU | MYOPATHY, CENTRONUCLEAR, 1 | OMIM | 602378.0011 | Disease | p.SER615TRP | MYOPATHY, CENTRONUCLEAR, 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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