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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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 Default View:
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 Domains found on the Protein Table of Mutations found on the Protein| Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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| Swiss-Prot | VAR_012861 | Disease | p.ALA333PRO | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_012859 | Disease | p.ALA297SER | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_045925 | Disease | p.ARG97CYS | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_012860 | Disease | p.ARG314HIS | Cardiomyopathy, dilated 1R (CMD1R) | | Swiss-Prot | VAR_012862 | Disease | p.GLU363GLY | Cardiomyopathy, dilated 1R (CMD1R) | | Swiss-Prot | VAR_012857 | Disease | p.GLU101LYS | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_045924 | Disease | p.HIS90TYR | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_046504 | Disease | p.MET307LEU | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_046502 | Disease | p.MET125VAL | Atrial septal defect 5 (ASD5) | | Swiss-Prot | VAR_012858 | Disease | p.PRO166ALA | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | Swiss-Prot | VAR_046503 | Disease | p.TYR168CYS | Cardiomyopathy, familial hypertrophic 11 (CMH11) | | OMIM | 102540.0007 | Disease | p.ALA331PRO | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 | | OMIM | 102540.0003 | Disease | p.ALA295SER | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 | | OMIM | 102540.0001 | Disease | p.ARG312HIS | CARDIOMYOPATHY, DILATED, 1R | | OMIM | 102540.0002 | Disease | p.GLU361GLY | CARDIOMYOPATHY, DILATED, 1R | | OMIM | 102540.0009 | Disease | p.GLU101LYS | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11||LEFT VENTRICULAR NONCOMPACTION 4, INCLUDED | | OMIM | 102540.0004 | Disease | p.HIS90TYR | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 | | OMIM | 102540.0005 | Disease | p.MET123VAL | ATRIAL SEPTAL DEFECT 5 | | OMIM | 102540.0008 | Disease | p.PRO164ALA | CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11 |
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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54036697
ACTC_HUMAN RecName: Full=Actin, alpha cardiac muscle 1; AltName: Full=Alpha-cardiac actin; Flags: Precursor
19
0
8
0
11
