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Related terms:
chromosome aberration
gene amplification
gene duplication
mutation
frameshift mutation
point mutation
germ-line mutation
allelic imbalance
genomic instability
Genetic Function
missense mutation
Subclass of:
Mutation
Definitions related to missense mutation:
  • A point mutation occurring within the protein-coding region of a gene, and which codes for a different amino acid than expected.
    NCI Thesaurus
    U.S. National Cancer Institute, 2021
  • A single base pair substitution that alters the genetic code in a way that produces an amino acid that is different from the usual amino acid at that position. Some missense mutations will alter the function of the protein.
    NCI Dictionary of Cancer Terms
    U.S. National Cancer Institute, 2021
  • (mutation, missense) A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
    NLM Medical Subject Headings
    U.S. National Library of Medicine, 2021
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This content should not be used in place of medically-reviewed decision support reference material or professional medical advice. Some terms may have alternate or updated definitions not reflected in this set. The definitions on this page should not be considered complete or up to date.

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