Protein-truncating variants

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Protein-truncating variants (PTVs) are genetic variants predicted to shorten the coding sequence of genes,[1] through ways like a stop-gain mutation.[2][3][4][5] PTV is sometime categorized under the umbrella term frameshift or truncating variants (FTVs), which includes both PTVs and DNA variants caused by frameshift mutation.

Implication in diseases/disorders

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It was believed that protein-truncating variants are not associated with human diseases.[2] Recent studies have implied the involvement of PTVs in autism spectrum disorder.[6]

References

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