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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 | rs61746358 | Polymorphism | p.ARG40TRP | N/A | dbSNP | rs201542789 | Polymorphism | p.VAL489GLY | N/A | OMIM | 602743.0001 | Disease | p.ARG258GLN | WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED | OMIM | 602743.0007 | Disease | p.ARG487GLN | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | OMIM | 602743.0006 | Disease | p.ARG487GLY | WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET | OMIM | 602743.0005 | Disease | p.ASN444ILE | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0010 | Disease | p.GLU462GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0009 | Disease | p.HIS486ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0002 | Disease | p.HIS98ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0011 | Disease | p.SER504PRO | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0004 | Disease | p.THR356ASN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0008 | Disease | p.TYR443HIS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 |
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
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