A point mutation affects a single base pair. Terminology varies: the broad usage includes a one-base pair insertion or deletion as well as a nucleotide substitution. Describing the actual sequence change avoids this ambiguity.[ref]
Point Mutation by National Human Genome Research Institute. Definition: a single base pair added, deleted or changed
A nucleotide substitution replaces a nucleotide at a specified position without changing sequence length. In a fixed reading frame, a single substitution can preserve an amino acid assignment, change it or introduce a stop codon; the mutation ledger exhibits all three possibilities.
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A point mutation is a type of genetic mutation that involves a change in a single nucleotide base pair in the DNA sequence. This alteration can occur in various ways, including: 1. **Substitution**: One nucleotide is replaced by another. This can be further classified into: - **Silent mutation**: The substitution does not change the amino acid sequence of the protein.