noun, plural: base pair substitutions
A type of mutation involving replacement or substitution of a single nucleotide base with another in DNA or RNA molecule.
This type of mutation occurring in noncoding sequences often does not result in an altered amino acid sequence during translation. If such mutation occurs in the promoter sequence of a gene, the effect may be apparent since the expression of the gene may change.
Depending on the type of nitrogenous base involved, this type of mutation may be categorized as:
- base-pair substitution
- substitution mutation
- base substitution
See also: point mutation