mis-sense mutation


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Related to mis-sense mutation: Silent mutation, frameshift mutation

mis-sense mutation

a change to the base sequence of a DNA CODON so that it now encodes a different amino acid. For example, a SUBSTITUTION MUTATION in the first base of a triplet might produce the following missense mutation: CCU (pro) → ACU (thr). see GENETIC CODE.
References in periodicals archive ?
Mutational analysis of KIF21A in CFEOM1 confirmed 13 different mis-sense mutations (c.84C>G, c.!056C->G, C.1067T>C, c.2830G>C, c.2839A>G, c.2840T>G, c.2840T>C, c.2841G>A, C.2860OT, c.2861G>A, c.2861G>T, c.3022G>C, c.3029T>C) and a deletion c.3000_3002deITGA (p.Asp 1001 del) at codon 1001 (14,15).
Many patients in this group could not be identified genetically until GOF heterozygous mis-sense mutations in the STAT1 molecule were defined in this decade [10,11].
These mutations are scattered throughout the kinase domain in a pattern similar to that described in gastrointestinal stromal tumors (GISTs), except that mis-sense mutations are predominant and deletions and insertion/duplications are rare.