missense mutation


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Related to missense mutation: frameshift mutation, Silent mutation

mis·sense mu·ta·tion

a mutation in which a base change or substitution results in a codon that causes insertion of a different amino acid into the growing polypeptide chain, giving rise to an altered protein.
[mis-sense by analogy with non-sense]

missense mutation

A base substitution which changes a trinucleotide codon for amino acid “X” into a codon for “Y” corresponding to a different amino acid, which may result in the translation of a non-functioning protein—as occurs in sickle cell anaemia, in which the mutation of a single nucleotide (A to T) on the beta-globin gene results in glutamic acid being substituted by valine at position 6.

missense mutation

A substitution of a single DNA nucleotide for another. This results in the transcription of a different amino acid than is normally found in the protein coded by the gene. Missense mutations are found in diseases such as sickle cell anemia. Red blood cell sickling is caused by the replacement of the amino acid glutamic acid by valine in the sixth position of the beta hemoglobin chain.
See also: mutation

missense mutation

A mutation caused by a change in a nucleotide sequence that changes a codon specifying a particular AMINO ACID into one that specifies a different amino acid.
References in periodicals archive ?
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed.
Pathogenicity of novel missense mutations was predicted using bioinformatics software programs such as SIFT (http://sift.
A missense mutation in the agouti signaling protein gene (ASIP) is associated with the no light points coat phenotype in donkeys.
If the unexpected mutation is something like a frameshift or nonsense mutation, accepting this as the cause behind the symptoms may be relatively straightforward; if it's a missense mutation where one amino acid code is substituted for another, interpretation may be more complex and require evaluation of the encountered mutation in a model system to ascertain if it's causal.
However, no other missense mutation in the Asp1260 residue has been reported, it is not conserved, and PolyPhen and MutPred analysis both suggest it has no deleterious effect on the FVIII protein (Table II).
The genetic study conducted identified a pathogenic change C698G, a missense mutation in FH gene.
Can DrA: cancer-specific driver missense mutation annotation with optimized features.
In this study, we showed a de novo missense mutation in the High Mobility Group (HMG) region of the SOX9 gene in a patient who had the typical clinical findings of CD.
The first missense mutation (P521A) associated with IBGC was found in exon 20 of the CTAGE5 gene in a large American family linked to IBGC1 (13); however, this mutation was not detected in the two affected Brazilian families as well as in this affected Iranian family (4), (17).