Protein-truncating variants (PTVs) are
genetic variant Genetic variant may refer to:
* Single-nucleotide polymorphism (SNP), in a case it is a common genetic variant
* Mutation, in a case where it is a rare genetic variant
* Copy-number variation
* Variant (biology)
See also
* Genetic variation (dis ...
s 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
A frameshift mutation (also called a framing error or a reading frame shift) is a genetic mutation caused by indels (gene insertion, insertions or genetic deletion, deletions) of a number of nucleotides in a DNA sequence that is not divisible by ...
.
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
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulti ...
.
References
Mutation
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