|
|
|---|
 |
|
|  | 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 Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
|---|
| Swiss-Prot | VAR_063070 | Disease | p.ALA8VAL | Cardiomyopathy, familial hypertrophic 13 (CMH13) | | Swiss-Prot | VAR_063073 | Disease | p.ASP145GLU | Cardiomyopathy, familial hypertrophic 13 (CMH13) | | Swiss-Prot | VAR_063071 | Disease | p.CYS84TYR | Cardiomyopathy, familial hypertrophic 13 (CMH13) | | Swiss-Prot | VAR_063072 | Disease | p.GLU134ASP | Cardiomyopathy, familial hypertrophic 13 (CMH13) | | Swiss-Prot | VAR_043988 | Disease | p.GLY159ARG | Cardiomyopathy, dilated 1Z (CMD1Z) | | Swiss-Prot | VAR_019776 | Disease | p.LEU29GLN | Cardiomyopathy, familial hypertrophic 13 (CMH13) | | OMIM | 191040.0006 | Disease | p.ALA31SER | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | | OMIM | 191040.0003 | Disease | p.ALA8VAL | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | | OMIM | 191040.0005 | Disease | p.ASP145GLU | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | | OMIM | 191040.0004 | Disease | p.CYS84TYR | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 | | OMIM | 191040.0001 | Disease | p.GLY159ASP | CARDIOMYOPATHY, DILATED, 1Z | | OMIM | 191040.0002 | Disease | p.LEU29GLN | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13 |
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 |
|
54042075
TNNC1_HUMAN RecName: Full=Troponin C, slow skeletal and cardiac muscles; Short=TN-C
12
0
6
0
6
