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 ?
The missense mutation loci (SNP1 and SNP3) only had one kind of genotype of each locus, meaning that the mutation frequency was very low.
In our patient it was identified a pathogenic change C698G, a missense mutation in FH gene, one of the 125 identified mutation.
the genome informatics company, announced today the identification of de novo KCNB1 missense mutations as a novel genetic cause of severe epileptic encephalopathy.
W1327X which is a known missense mutation was found homozygously in patient 7 who presented with hepatomegaly at the age of one.
A novel missense mutation in MSX1 underlies autosomal recessive oligodontia with associated dental anomalies in Pakastani families.
Traditionally, biopsy was necessary to diagnose the disease, but diagnosis can now be made by MR imaging, using the criteria defined by van der Knaap et ail' Additional confirmation can be obtained via genetic testing of a blood sample for missense mutation in the gene encoding for GFAP.
The V600E missense mutation located on exon 15 of the BRAF gene--the most potent mitogen-activating gene--might have a valuable role to play in sorting out this higher-risk subset.
TA7001 and TA7004 are base-substitution specific strains, which carry a target missense mutation in the hisG gene.
Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes.
Alexander disease is caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein (GFAP).
albicans isolates, 1 had a missense mutation in HS2, and 1 had a combination of 2 heterozygous mutations in HS1.