A mutation is a permanent change in the nucleotide sequence of an organism's DNA, ranging from single base substitutions to insertions, deletions, and larger structural rearrangements. Mutations may be inherited through the germline or acquired somatically in individual cells over a lifetime, and their functional co…
A mutation is a permanent change in the nucleotide sequence of an organism's DNA, ranging from single base substitutions to insertions, deletions, and larger structural rearrangements. Mutations may be inherited through the germline or acquired somatically in individual cells over a lifetime, and their functional consequences depend on where they occur and how they alter the resulting gene product. In disease genetics, particular attention falls on variants that disrupt protein structure, stability, or signaling, and on distinguishing pathogenic changes from variants of uncertain clinical significance through functional, structural, and contextual analysis. Mutations underlie a wide spectrum of conditions: somatic alterations in tumor suppressors such as TP53 and in signaling molecules contribute to cancer initiation and progression, while germline mutations in genes governing coagulation, ion channels, ribosomal proteins, and structural components cause inherited disorders. Classification typically considers the molecular type of change, its effect on function, and its clinical actionability. Researchers map the mutational landscape of tumors and hereditary syndromes, characterize novel variants in affected families, and interpret how specific changes drive phenotypes. Understanding mutation also illuminates broader population processes, including allele frequency dynamics and genetic drift, connecting the molecular event to evolution, diagnosis, risk assessment, and increasingly precise, genotype-informed clinical care.
12 peer-reviewed articles, ranked by relevance. Each links to its DOI.
The 12 articles above have been cited 26 times in the scholarly literature. Citation data via OpenAlex and Crossref, updated Jun 2026.
A sample of recent works citing this journal's research on Mutation, linking to each citing work.