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Missense mutation

Definition(s)

A single base pair substitution that results in the translation of a different amino acid at that position

Definition from: GeneReviewsThis link leads to a site outside Genetics Home Reference. from the University of Washington and the National Center for Biotechnology Information

A missense mutation is when the change of a single base pair causes the substitution of a different amino acid in the resulting protein. This amino acid substitution may have no effect, or it may render the protein nonfunctional.

Definition from: Talking Glossary of Genetic TermsThis link leads to a site outside Genetics Home Reference. from the National Human Genome Research Institute

Related discussion in the Handbook

See also Understanding Medical Terminology.

 
Published: December 16, 2014