2020
Overview
A frameshift mutation is a type of genetic mutation in which the insertion or deletion of a number of nucleotides not divisible by three shifts the reading frame of a gene. Because the genetic code is read in consecutive three-base codons, this shift changes every codon downstream of the mutation, usually producing an entirely different amino acid sequence and frequently introducing a premature stop codon that truncates the protein. The result is often a non-functional or severely altered protein product, which is why frameshift mutations can have profound effects on health and are implicated in a range of inherited disorders and cancers. Frameshift mutations are a core topic in molecular genetics and genetic engineering, where identifying the precise nature of a mutation is essential to understanding how it disrupts protein function and to designing diagnostic and corrective strategies. Research in this journal includes molecular analysis of disease-associated genes in affected patients, work that reflects the broader effort to characterize mutations and connect specific sequence changes to their biological consequences. This page gathers peer-reviewed, open-access research relevant to frameshift mutations and the molecular analysis of genetic variation.
Research published in this journal
1 peer-reviewed article, ranked by relevance. Each links to its DOI.