Point mutation

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• Mutation

A point mutation is the most limited type of mutation, whereby a single base nucleotide is replaced with another nucleotide. Sometimes the expression "point mutation" can also include the addition or subtraction of a single base pair, which is also referred to as an "indel".

The sickle-cell disease is caused by a single point mutation in one allele of the beta hemoglobin gene, whereby a CCT codon is converted into TCT. The TCT then mistakenly encodes the amino acid serine instead of proline.

Point mutations do not add new information to the genome.