Article
A rising titan: TTN review and mutation update.
Human mutation - 1 Sept 2014
Chauveau Claire, Rowell John, Ferreiro Ana
Abstract excerpt
The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles. Prior to next-generation sequencing (NGS), routine analysis of the whole TTN gene was impossible due to its giant size and complexity. Thus, only a few TTN mutations had been reported and the general incidence and spectrum of...
Topics
- Alternative Splicing
- Animals
- Connectin
- Disease Models, Animal
- Genetic Association Studies
- Genetic Variation
- Genetics, Population
- Humans
- Inheritance Patterns
- Mutation
- Protein Isoforms
- Structure-Activity Relationship