- A single base pair substitution that results in the translation of a different amino acid at that position
Definition from: GeneReviews
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 Terms from the National Human Genome Research Institute
Related discussion in the Handbook
See also Understanding Medical Terminology.