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 ?
The silico functional analysis of the missense mutations in NLRP12 Variant Animo SubPSEC [P.
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
Five of them are missense mutations (Table 2) which were selected for subsequent association study, although the synonymous mutations and variations outside coding regions might have potential functions.
A novel missense mutation C11994T in the mitochondrial ND4 gene as a cause of low sperm motility in the Indian subcontinent.
The C>G mutation identified a missense mutation R158G, which resulted in charge change from positive charge to zero.
This study demonstrated a missense mutation at codon 273 in exon 8 (CGT>CAT), resulting in an amino acid change from arginine to histidine.
With the advent of DNA-based testing, we now understand that the molecular basis for AJ pseudodeficiency alleles is the missense mutation R247W.
Seven of nine MDR W-Beijing strains carried missense mutations in two muT genes (mutT2 and mutT4), and two had a missense mutation in both mutT4 and ogt (Table 1 and 2).
Based on [beta]-catenin immunostaining and CTNNB1 and APC mutational analyses, Wnt signaling pathway defects were identified in 26% of ovarian endometrioid adenocarcinomas, almost always because of a missense mutation of CTNNB1.
Paul, Minnesota; the virus had a missense mutation in the preponderant surface glycoprotein called gE (1,2).