Elimination of the N- or C-terminal portion of a protein by proteolysis or manipulation of the structural gene, or premature termination of protein elongation due to the presence of a termination codon in its structural gene as a result of a nonsense mutation.

What can cause truncated protein?

Protein truncations are generally thought to be the result of protease activity and so proteases may be new drug targets if their substrates are a disease driver. Notwithstanding the pervasiveness of proteolysis in vivo, neo N‐ and C‐termini can also result from alternative translation and alternative splicing events.

What is a protein truncating mutation?

Protein-truncating variants (PTVs) 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 (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.