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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_013264 | Disease | p.ARG302GLN | Wolff-Parkinson-White syndrome (WPWS) | Swiss-Prot | VAR_013269 | Disease | p.ARG531GLN | Glycogen storage disease of heart lethal congenital (GSDH) | Swiss-Prot | VAR_032909 | Disease | p.ARG531GLY | Wolff-Parkinson-White syndrome (WPWS) | dbSNP | rs61746358 | Polymorphism | p.ARG84TRP | N/A | Swiss-Prot | VAR_013268 | Disease | p.ASN488ILE | Cardiomyopathy, familial hypertrophic 6 (CMH6) | Swiss-Prot | VAR_013266 | Disease | p.HIS383ARG | Cardiomyopathy, familial hypertrophic 6 (CMH6) | Swiss-Prot | VAR_048250 | Polymorphism | p.MET6LEU | N/A | dbSNP | rs116605521 | Polymorphism | p.SER20ILE | N/A | Swiss-Prot | VAR_013267 | Disease | p.THR400ASN | Cardiomyopathy, familial hypertrophic 6 (CMH6) | dbSNP | rs201542789 | Polymorphism | p.VAL533GLY | N/A | OMIM | 602743.0001 | Disease | p.ARG302GLN | WOLFF-PARKINSON-WHITE SYNDROME||CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6, INCLUDED | OMIM | 602743.0007 | Disease | p.ARG531GLN | GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL | OMIM | 602743.0006 | Disease | p.ARG531GLY | WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET | OMIM | 602743.0005 | Disease | p.ASN488ILE | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0010 | Disease | p.GLU506GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0002 | Disease | p.HIS142ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0009 | Disease | p.HIS530ARG | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0011 | Disease | p.SER548PRO | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0004 | Disease | p.THR400ASN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 | OMIM | 602743.0008 | Disease | p.TYR487HIS | 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.
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