|
|
|
|
Known Diseases associated with this Protein: | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC (CMH)
| CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC
|
| | 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. |
---|
Default View:
| |
---|
Domains found on the Protein Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_014198 | Disease | p.ALA95GLU | Cardiomyopathy, familial hypertrophic (CMH) | Swiss-Prot | VAR_040860 | Polymorphism | p.ALA117VAL | N/A | Swiss-Prot | VAR_014197 | Disease | p.ALA87VAL | Cardiomyopathy, familial hypertrophic (CMH) | dbSNP | rs115398036 | Polymorphism | p.GLY89ASP | N/A | Swiss-Prot | VAR_040861 | Polymorphism | p.GLY142VAL | N/A | Swiss-Prot | VAR_040863 | Polymorphism | p.LYS324ASN | N/A | Swiss-Prot | VAR_040862 | Polymorphism | p.PRO144ALA | N/A | OMIM | 606566.0002 | Disease | p.ALA95GLU | CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC | OMIM | 606566.0001 | Disease | p.ALA87VAL | CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC |
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 |
|