missense mutation

(redirected from Missense mutations)
Also found in: Encyclopedia.

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 ?
796C>A) was proved to be less conserved among different species, while the other four novel missense mutations were highly conserved [Figure 1].
Missense mutations at homologous positions in the fourth and fifth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa.
Dominant missense mutations in the NLRP3 gene found in the chromosome region 1q44 are responsible for most cases of CAPS (20).
Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants.
Two missense mutations in melanocortin 1 receptor (MC1R) are strongly associated with dark ventral coat color in reindeer (Rangifer tarandus).
Earlier, there were many studies related to polymorphism screening by applying computational approach to predict the functional missense mutations associated with gene like ubiquitin-specific protease 9, Y chromosome, USP9Y (41); Deleted in Azoospermia Like, DAZL (42); Superoxide Dismutase 2, SOD2 (43); Phosphatase and tensin homolog, PTEN (44).
No other missense mutations have been reported in the Met2257 residue and it is conserved in 5/8 of the species analyzed (Table II).
6 Dyskeratosis congenita (DKC)is caused pre-dominantly by missense mutations in the DKC1 gene linked to Xq28,8 although auto-somal forms may harbour abnormalities in the RNA component of telomerase.
Most were missense mutations that may not be functional.
Structural analysis of missense mutations causing isolated sulfite oxidase deficiency.