nonsense mutation

Accession MO:0000022
DefinitionA nucleotide substitution resulting in a change from an amino acid codon to a STOP codon. Nonsense mutations truncate protein translation prematurely, resulting in a defective or completely inactive protein. In CARD, nonsense mutations may be attached to models using the notation: [wild type amino acid][position][STOP] (e.g. Q42STOP). This parameter is not currently used in detection algorithms.
Classification2 ontology terms | Show
Parent Term(s)2 ontology terms | Show