from The American Heritage® Dictionary of the English Language, 4th Edition
- adj. Of or relating to a mutation that changes a codon for one amino acid into a codon for a different amino acid.
from Wiktionary, Creative Commons Attribution/Share-Alike License
- n. A damaged DNA sequence that is meaningful but has an incorrect meaning, with the result that its products do not do what they are supposed to do.
from The Century Dictionary and Cyclopedia
- To give a wrong sense or meaning to.
Genetic diseases are often caused by a specific type of genetic alteration called a missense mutation that makes cells add an incorrect amino acid into the protein chain.
DDS: These individuals carry specific alterations known as missense mutations, mostly in exons 8 or 9 of one working copy of the WT1 gene.
Three of these resulted in missense mutations in mitochondrially encoded NADH dehydrogenases 1, 2 and 4, and one caused a nonsense mutation in ATPase 6.
To confirm the HIF-1α-dependent regulation of 5-FU responsiveness and to further characterize the contribution of p53, we examined a second human gastric cancer cell line (MKN28), which carries a missense mutation in
The missense mutation resulted in inactivation of the autoglucosylation of glycogenin-1 that is necessary for the priming of glycogen synthesis in muscle.
GYG1, revealed a nonsense mutation in one allele and a missense mutation, Thr83Met, in the other.
A140V, is a common, recurring missense mutation accounting for about 0. 6% of all MeCP2 mutations and ranking 21st by frequency.
In transfected cells or leukocytes from affected dogs, the missense change leads to a 75% decrease in sulfatase activity, providing a functional confirmation that the variant might be the NCL-causing mutation.
Since the shape of a protein depends on the specific arrangement of amino acids, even a single error amid a gene's very long stretch of DNA can cause the gene's protein product to become misshapen. researchers studied ways to reverse the functional effects of missense mutationsfor three genetic diseases: two severe inherited metabolic disorders (CBS deficiency and MTHFR deficiency) and one inherited cancer syndrome (Li-Fraumeini).
Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, et al. (1990) A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation.
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