Definition
When a DNA variant changes a coding codon to a stop codon. This results in a shorter, often non-functional protein.
Use in clinical context
Nonsense variants can have severe implications on the production of the protein that the gene provides instructions for. These variants introduce stop codons into a gene prematurely, stopping translation and resulting in a short mRNA and short protein. Usually this causes incorrect protein function, with resulting phenotypic effects for the individual. Nonsense variants can cause some rare conditions, including cystic fibrosis and beta-thalassaemia.
Related terms
Codon | Deoxyribonucleic acid (DNA) | Gene | Messenger RNA | Phenotype | Protein | Translation | Variant
