Glossary Term
Missense Mutation
PCR TermsEN
Definition
A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
Extended Notes
Source: National Cancer Institute, NCI Thesaurus 26.09d, C18133. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Also Known As
Exon Non-Synonymous MutationExonic Non-Synonymous MutationMissense MutationMissense Mutation AbnormalityMissense VariantMutation, MissenseNon-Synonymous MutationSubstitution Mutation
References
- NCI Thesaurus 26.09d — Missense Mutation (C18133)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C18133. NCI definition, reproduced without modification under CC BY 4.0.
- A novel γ-chain Tyr306Asn missense mutation causes congenital dysfibrinogenemia. — Clin Chim Acta, 2026-10-03 (PMID 42829043; literature)
- Lung Squamous Cell Carcinoma Harbouring a Novel PAX8::PPARγ Fusion and a FGFR2 Exon 7 Missense Mutation. — Cytopathology, 2026-09-16 (PMID 42750272; literature)
- KCNJ2 gene spontaneous missense mutation in a child with Andersen-Tawil syndrome: a case report. — Front Pediatr, 2026-10-12 (PMID 42935978; literature)