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.

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MRTX849 is an investigational, orally-available small molecule that is designed to potently and selectively inhibit a form of KRAS which harbors a substitution mutation (G12C).
(b) Frequency of mutant colonies containing a base substitution mutation or one-base deletion mutation at position 159 of supF on wild-type pMY189 and/or 8BrG-containing pMY189 in a supF forward mutation assay in H1299, LN428, and 16HBE14o- cells.
Genetic basis of Bart's syndrome: a glycine substitution mutation in type VII collagen gene.
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).
CE conditions were as follows: The fluorocarbon-coated capillary (50 [micro]m i.d.) 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.
The company said MRTX849 is an orally-available small molecule that potently and selectively inhibits a form of KRAS which harbours a substitution mutation (G12C).
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. A total of 16 conservative transversions (11 C/G and 5 A/T) were examined (Tables 1-3).
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.