missense mutation


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Related to missense mutation: frameshift mutation, Silent mutation

missense mutation

[′mis·əns myü′tā·shən]
(cell and molecular biology)
A mutation that converts a codon coding for one amino acid to a codon coding for another amino acid.
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References in periodicals archive ?
However, KIT is a large gene, and the missense mutation on KIT exon 13 is not the only mutation that can lead to the white phenotype in goats.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
In exon 2, another missense mutation G-A (R-H) existed at 125th locus showing obvious effect on litter size in Dazu Black and Nanjiang Yellow goats (Zhao et al.
According to HOPE in E18D, the wild type protein framework was disturbed due to shift of glutamic acid to aspartic acid upon missense mutation which may cause loss of interaction.
Grebe-type chondrodysplasia: a novel missense mutation in a conserved cysteine of the growth differentiation factor 5.
Recently the actual disease gene dilemma in SHFM-1 was solved by Shamseldinet al10 who studied an autosomal recessive SHFM consanguineous Yemeni family at molecular level and reported a homozygous missense mutation in the gene DLX5.
5% of T-ALL patients had the same RPL10 R98S missense mutation.
Mutational analysis of PTPN 11 gene showed a heterozygous pathogenic missense mutation in exon 13 was detected [c.
The group detected one typical oculo-auriculo-vertebral spectrum patient who had a missense mutation in exon 9 of the TCOF1 gene and two silent mutations in exons 10 and 23.
In case of RIF resistance isolates, missense mutation at codons 531 and 516 of rpoB gene was observed.
Alexander disease (fibrinoid leucodystrophy), originally described by Alexander in 1949, (1) is a rare, fatal, nonfamilial leucoencephalopathy caused by astrocyte dysfunction characterised by missense mutation in the genes coding for glial fibrillary acidic protein(GFAP).