Sentence examples for mutation the missense from inspiring English sources

Thus, we focused our investigation on the third mutation, the missense p.T59R.

Clear examples are the above-mentioned BRCA1 mutation, the missense mutation in TP53 resulting in R110P, the mutation in NF1 damaging the donor site for splicing, and the deletion in region 17q11-17q21 which removed one copy of each of these three genes.

In this study, the definition of a genetic mutation is confined to the protein-truncating mutation and the missense mutation, which have a confirmed association to disease.

Four additional patients carried one missense mutation and one insertion or deletion mutation, and the missense mutations in these four patients were accurately detected.

However, our study shows that the most frequently found type of mutation is the missense mutation in both cases for LoF and GoF mutations.

She had genetic testing at age 42 and was found to carry both the deleterious truncating mutation and the missense mutation.

Among these mutations' analyses, the missense mutation which is a point mutation that can cause different codon coding through gene is widely noted [ 14, 15].

The most common mutation was the missense p.H1069Q mutation, being homozygous in 30 (50.9%) and compound heterozygous in 15 (25.4%) patients.

The most prevalent type of mutations was the missense mutations (43%) followed by splice defects (26%) and small deletions (20%).

The most common mutations were the splice site mutation c.3992-9G>A and the missense mutation p.G111R, found in six patients each.

The mutation on chr02 is the missense mutation (V2728F) in ubp1.