- In genetics, a type of mutation due to replacement of one nucleotide in a DNA sequence by another nucleotide or replacement of one amino acid in a protein by another amino acid.
Definition from: Human Genome Project Information
at the U.S. Department of Energy
- Substitution is a type of mutation where one base pair is replaced by a different base pair. The term also refers to the replacement of one amino acid in a protein with a different amino acid.
Definition from: Talking Glossary of Genetic Terms from the National Human Genome Research Institute
Related discussion in the Handbook
See also Understanding Medical Terminology.