NCI Dictionary of Genetics Terms

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Welcome to the NCI Dictionary of Genetics Terms, which contains technical definitions for more than 150 terms related to genetics. These definitions were developed by the PDQ® Cancer Genetics Editorial Board to support the evidence-based, peer-reviewed PDQ cancer genetics information summaries.

missense mutation
(MIS-sens myoo-TAY-shun)
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.