Protein-truncating variants

Protein-truncating variants are genetic variants predicted to shorten the coding sequence of genes, through ways like a stop-gain mutation. PTV is sometime categorized under the umbrella term frameshift or truncating variants, which includes both PTVs and DNA variants caused by frameshift mutation.

Implication in diseases/disorders

It was believed that protein-truncating variants are not associated with human diseases. Recent studies have implied the involvement of PTVs in autism spectrum disorder.