Unit content
Coding-sequence consequences of base substitutions
A base substitution changes one nucleotide to another. In a protein-coding sequence, the biological consequence depends on how that change alters an mRNA codon.
Substitutions are also classified by base chemistry:
- a transition replaces a purine with another purine (A↔G) or a pyrimidine with another pyrimidine (C↔T);
- a transversion exchanges a purine for a pyrimidine or vice versa.
This classification describes the DNA change, not its functional effect.
Synonymous substitution
Because the genetic code is degenerate, a changed codon can still specify the same amino acid.
GAA → GAG
Glu → Glu
This is synonymous with respect to the encoded amino acid. Synonymous does not mean that every possible biological effect is absent; it means only that the amino-acid identity is unchanged.
Missense substitution
A changed codon can specify a different amino acid:
GAA → GUA
Glu → Val
This is a missense substitution. Its effect depends on the chemical difference between the amino acids and the role of that residue in the protein.
Nonsense substitution
A substitution can convert an amino-acid codon into a stop codon:
UAU → UAA
Tyr → Stop
This is a nonsense substitution and can terminate translation prematurely.
Thus the same DNA-level event—a single substitution—can be synonymous, missense or nonsense depending on coding context. Sequence-change class and functional consequence are separate levels of description.