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  2. Synonymous substitution - Wikipedia

    en.wikipedia.org/wiki/Synonymous_substitution

    Point substitution mutations of a codon, classified by their impact on protein sequence. A synonymous substitution (often called a silent substitution though they are not always silent) is the evolutionary substitution of one base for another in an exon of a gene coding for a protein, such that the produced amino acid sequence is not modified.

  3. Silent mutation - Wikipedia

    en.wikipedia.org/wiki/Silent_mutation

    Silent mutations, also called synonymous or samesense mutations, are mutations in DNA that do not have an observable effect on the organism's phenotype. The phrase silent mutation is often used interchangeably with the phrase synonymous mutation ; however, synonymous mutations are not always silent, nor vice versa.

  4. Mutation rate - Wikipedia

    en.wikipedia.org/wiki/Mutation_rate

    These sites are typically called neutral sites. Theoretically mutations under no selection become fixed between organisms at precisely the mutation rate. Fixed synonymous mutations, i.e. synonymous substitutions, are changes to the sequence of a gene that do not change the protein produced by that gene. They are often used as estimates of that ...

  5. Point mutation - Wikipedia

    en.wikipedia.org/wiki/Point_mutation

    Silent mutations code for the same amino acid (a "synonymous substitution"). A silent mutation does not affect the functioning of the protein. A single nucleotide can change, but the new codon specifies the same amino acid, resulting in an unmutated protein.

  6. Ka/Ks ratio - Wikipedia

    en.wikipedia.org/wiki/Ka/Ks_ratio

    It is calculated as the ratio of the number of nonsynonymous substitutions per non-synonymous site (K a), in a given period of time, to the number of synonymous substitutions per synonymous site (K s), in the same period. The latter are assumed to be neutral, so that the ratio indicates the net balance between deleterious and beneficial mutations.

  7. Missense mutation - Wikipedia

    en.wikipedia.org/wiki/Missense_mutation

    Missense mutation is a type of nonsynonymous substitution in a DNA sequence. Two other types of nonsynonymous substitution are the nonsense mutations , in which a codon is changed to a premature stop codon that results in truncation of the resulting protein , and the nonstop mutations , in which a stop codon erasement results in a longer ...

  8. McDonald–Kreitman test - Wikipedia

    en.wikipedia.org/wiki/McDonald–Kreitman_test

    In a protein-coding sequence of DNA, a site is synonymous if a point mutation at that site would not change the amino acid, also known as a silent mutation. Because the mutation did not result in a change in the amino acid that was originally coded for by the protein-coding sequence, the phenotype, or the observable trait, of the organism is ...

  9. Mutational signatures - Wikipedia

    en.wikipedia.org/wiki/Mutational_signatures

    A[C>A]A, A[C>A]T, etc.). The mutation catalog of a tumor is created by categorizing each single nucleotide variant (SNV) (synonyms: base-pair substitution or substitution point mutation) in one of the 96 mutation types and counting the total number of substitutions for each of these 96 mutation types (see figure).