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]
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

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
Medical Dictionary, © 2009 Farlex and Partners

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.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
References in periodicals archive ?
Interestingly, in this study two common missense mutations (c.676A>G and c.748T>G) were expressed in animals with white uniform (did not influence any melanin) tended to carry a higher frequency of heterozygote genotypes (0.72% and 0.66%, respectively), this suggested that these mutations may have effect white coat colors.
Identification of a novel missense mutation of MSX1 gene in Chinese family with autosomal-dominant oligodontia.
At D514, a compound heterozygous mutation has been reported to be a heterozygote of two different missense mutations including c.1228C>T (p.R410W) and c.1541A>T(p.D514V).9,16,25,26
For the 28 novel mutations, we predicted the effect of amino acid changes of the 22 missense mutations in ARSA by the web server PolyPhen-2 with the HumDiv model (Table 4).
Serpentine fibula-polycystic kidney syndrome (SFPKS) is allelic to HCS as its also due to NOTCH2 mutations [13], especially missense mutations [2, 11, 14].
[8] reported two cases of pulmonary blastoma and three cases of well differentiated fetal adenocarcinoma of the lung with squamoid morules which had somatic missense mutations in the [beta]-catenin gene.
All patients revealed a heterozygous missense mutation, which was in the hotspot with 18 amino acids (at codon 54-71) in transactivation domain.
Interestingly, 5 of the 6 missense mutations in ILDR1 including p.G141R were within the extracellular immunoglobulin (Ig) superfamily domain (Figure 3, bottom), suggesting that this domain may have a critical role in relation to the hearing function.
In this study, the guanine, G, 1 bp upstream of exon 6 changes to a cytosine, C, which is a missense mutation. So far, there have been no other reports of this mutation.
(f) Sequence chromatogram of the proband F11C showing the missense mutation c.5882G>A (p.Gly1961Glu) in heterozygosity on the second allele.
Prediction of stability change upon missense mutation: Generally, mutation leads to structural stability changes which affect the function of protein.
Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.