|
|
|
|
Known Diseases associated with this Protein: | CARDIOMYOPATHY, DILATED 1D (CMD1D)
| CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 2 (CMH2)
|
| | 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 Domain ↕ | CD Accession ↕ | E-Value ↕ | Start ↕ | End ↕ |
---|
Table of Mutations found on the ProteinSource ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_016197 | Disease | p.ALA114VAL | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_067259 | Disease | p.ALA38VAL | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_042747 | Disease | p.ARG140CYS | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_007612 | Disease | p.ARG288CYS | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_019880 | Disease | p.ARG296CYS | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_007606 | Disease | p.ARG102GLN | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_016195 | Disease | p.ARG102LEU | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_009194 | Disease | p.ARG104LEU | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_043984 | Disease | p.ARG215LEU | Cardiomyopathy, dilated 1D (CMD1D) | Swiss-Prot | VAR_013021 | Polymorphism | p.ARG139LYS | N/A | Swiss-Prot | VAR_029450 | Polymorphism | p.ARG140LYS | N/A | Swiss-Prot | VAR_007613 | Disease | p.ARG288PRO | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_016196 | Disease | p.ARG102TRP | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_043983 | Disease | p.ARG141TRP | Cardiomyopathy, dilated 1D (CMD1D) | Swiss-Prot | VAR_016198 | Disease | p.ARG151TRP | Cardiomyopathy, dilated 1D (CMD1D) | Swiss-Prot | VAR_019879 | Disease | p.ASN281ILE | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_029451 | Polymorphism | p.ASN279TYR | N/A | Swiss-Prot | VAR_007610 | Disease | p.GLU254ASP | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_007609 | Disease | p.GLU173LYS | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_007605 | Disease | p.ILE89ASN | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_042748 | Polymorphism | p.ILE221THR | N/A | Swiss-Prot | VAR_057310 | Polymorphism | p.ILE231THR | N/A | Swiss-Prot | VAR_007611 | Polymorphism | p.LYS263ARG | N/A | Swiss-Prot | VAR_007607 | Disease | p.PHE120ILE | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_019877 | Disease | p.PHE80LEU | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_019878 | Disease | p.PHE120VAL | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_016199 | Disease | p.SER189PHE | Cardiomyopathy, familial hypertrophic 2 (CMH2) | Swiss-Prot | VAR_013022 | Polymorphism | p.SER249THR | N/A |
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 |
|