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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_010656 | Disease | p.ARG1034CYS | Deafness, autosomal dominant, 13 (DFNA13) | Swiss-Prot | VAR_013597 | Polymorphism | p.ARG1600GLN | N/A | Swiss-Prot | VAR_013591 | Polymorphism | p.ASP593GLY | N/A | Swiss-Prot | VAR_033797 | Polymorphism | p.GLU1628ASP | N/A | Swiss-Prot | VAR_048805 | Polymorphism | p.GLU276LYS | N/A | Swiss-Prot | VAR_013592 | Polymorphism | p.GLU824LYS | N/A | Swiss-Prot | VAR_001907 | Disease | p.GLY661ARG | Otospondylomegaepiphyseal dysplasia (OSMED) | Swiss-Prot | VAR_013595 | Disease | p.GLY1441GLU | Weissenbacher-Zweymueller syndrome (WZS) | Swiss-Prot | VAR_010655 | Disease | p.GLY808GLU | Deafness, autosomal dominant, 13 (DFNA13) | Swiss-Prot | VAR_048806 | Polymorphism | p.LEU894PRO | N/A | Swiss-Prot | VAR_048807 | Polymorphism | p.PRO1722LEU | N/A | Swiss-Prot | VAR_013593 | Polymorphism | p.PRO879LEU | N/A | Swiss-Prot | VAR_048804 | Polymorphism | p.PRO236SER | N/A | Swiss-Prot | VAR_013596 | Polymorphism | p.PRO1316THR | N/A | Swiss-Prot | VAR_025276 | Disease | p.PRO621THR | Deafness, autosomal recessive, 53 (DFNB53) |
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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