substitution mutation

substitution mutation

a mutation affecting the base sequence of a DNA molecule, in which one base is substituted for another one, with no loss or gain of base and therefore no risk of a FRAMESHIFT.

A transition substitution mutation is the replacement of a PYRIMIDINE base by another pyrimidine (e.g. thymine changing to cytosine) or a PURINE by another purine (e.g. adenine replacing guanine). A transversion substitution mutation is the replacement of a pyrimidine by a purine or vice versa.

References in periodicals archive ?
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
Dominance of the substitution mutation at codon 531 followed by 526 and 516 was also observed in other studies (Ramaswamy and Musser 1998; Lingala et al.
For example, a substitution mutation (in which one amino acid is substituted for another) may not have a harmful effect if it does not result in a change in amino acid sequence, if it substitutes an amino acid with similar chemical properties, or if it happens between functional domains (Figure 1).
The breakthrough viral strain was DNA sequenced and shown to contain a substitution mutation of glycine to arginine at HBsAg aa position 145 (Gly/Arg 145) (17).
was 27 cm long (effective length, 20 cm) for deletion and insertion mutations 185delAG, 5382insC, 6174de1T, 16delAA, and 822delG, and 37 cm long (effective length, 30 cm) for the substitution mutation 3867G[right arrow]T.
A nucleotide substitution mutation within the DYS271 sequence tagged site (reported by Seielstad, et al.
The first was a synonymous substitution mutation of T to G at nucleotide position 123, which did not replace valine with any other amino acid.
The mutations and polymorphisms included 83 single nucleotide substitutions, 12 deletions, 2 insertions, and a composed deletion + substitution mutation.
The first was a synonymous substitution mutation of T to C at nucleotide position 221, which does not result in the alteration of coded amino acid residue, histidine.
Such a substitution mutation can be impotant because of its effect on mRNA stability, its transport or its translation due to codon usage bias.
The inferred residue analysis of the virus revealed a number of substitution mutations in the structural and functional domains when compared to the representative strains of each genotype including the vaccine strains (genotype II and III).