Project 3 >
Mutation Database
Project 3 >
Mutation Database
We have compiled a comprehensive list of mutations and missense polymorphisms in the following sarcomere protein genes. The mutations cause hypertrophic cardiomyopathy (HCM) or, in a smaller number of cases, dilated cardiomyopathy (DCM). Mutation reports were gathered from the literature and from mutation-discovery projects in the Seidman lab.
| Symbol | Gene | Mutations | ||
|---|---|---|---|---|
| HCM | DCM | |||
| MYH7 | beta-cardiac Myosin Heavy Chain | 194 | 13 | list |
| MYBPC3 | cardiac Myosin-Binding Protein C | 149 | 1 | list |
| TNNT2 | cardiac Troponin T | 31 | 6 | list |
| TNNI3 | cardiac Troponin I | 27 | 1 | list |
| TPM1 | alpha-Tropomyosin | 11 | 2 | list |
| ACTC | cardiac alpha-Actin | 7 | 2 | list |
| MYL2 | cardiac Regulatory Myosin Light Chain | 10 | 0 | list |
| MYL3 | cardiac Essential Myosin Light Chain | 5 | 0 | list |
| total mutations | 434 | 25 | ||
Contact us to submit your own sarcomere protein gene mutations and polymorphisms directly to this database.
| Use the Artemis DNA sequence viewer to visualize exons, primers, and known mutations in sarcomere genes. |  |
Last modified: April 24, 2006