missense mutation

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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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Pathogenicity of novel missense mutations was predicted using bioinformatics software programs such as SIFT (http://sift.
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.
Following demonstration of the fact that three missense mutations in the CARD15/NOD2 gene (R334Q, R334W, and L469F) cause Blau syndrome, different CARD15/NOD2 mutations have been identified through genotyping in many study groups of different ethnic origins (17).
Contemporarily missense mutations at 264C>A, 131T>C and 829C > T, in the coding region of GJA8, cause p.
Among the heterogeneous PAH alleles, missense mutations are the most common pathologic forms whereas small deletions, splice region variants, nonsense mutations, small insertions and large deletions occur much less frequently (16).
EBS affects more than 400,000 individuals worldwide and is usually linked to heterozygous missense mutations in genes encoding keratins 5 and 14, Dr.
Copy number variation and missense mutations of the agouti signaling protein (ASIP) gene in goat breeds with different coat colors.
Thus, to inspect the potential association among the genetic mutation and phenotypic variation, different algorithms are used to compute the high risk missense mutations in coding regions which may have impact on protein structure and/or function of UTY.
The results of the sequencing analyses for the 6 cases were as follows: in the first case, 4 missense mutations were detected in exons 3 and 8.
Mutations most often seen in the MTHFR gene, in particular C677T and A1298C missense mutations, have been found to have a relationship with cerebrovascular diseases.
In addition, we detected two missense mutations that have been previously reported: p.