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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 | rs10779261 | Polymorphism | p.ALA125THR | N/A | dbSNP | rs1805049 | Polymorphism | p.ARG1486LYS | N/A | dbSNP | rs1805048 | Polymorphism | p.ASP644VAL | N/A | dbSNP | rs696723 | Polymorphism | p.GLY713ARG | N/A | OMIM | 608400.0011 | Disease | p.ARG737TER | USHER SYNDROME, TYPE IIA||RETINITIS PIGMENTOSA 39, INCLUDED | OMIM | 608400.0009 | Disease | p.CYS419PHE | USHER SYNDROME, TYPE IIA | OMIM | 608400.0006 | Disease | p.CYS759PHE | RETINITIS PIGMENTOSA 39 | OMIM | 608400.0005 | Disease | p.CYS319TYR | USHER SYNDROME, TYPE IIA | OMIM | 608400.0004 | Disease | p.LEU260TER | USHER SYNDROME, TYPE IIA |
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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