Sentence examples for mutations were protein-truncating from inspiring English sources

All mutations were protein-truncating.

For the purpose of this study, mutations were protein-truncating or missense mutations classified deleterious as by the Breast Cancer Information Core National Human Genome Research Institutee, 2002).

Mutations were protein-truncating or missense mutations classified as deleterious by the Breast Cancer Information Core National Human Genome Research Institutee, 2002).

None of the recurrent IL7R mutations are protein-truncating.

Five of the 11 novel mutations are predicted to be protein truncating: c.279+1G>T and c.461+1G>C alter a consensus splice site; c.130C>T is a nonsense mutation (p.Gln44*); c.135delA results in a frameshift (p.Glu45Aspfs*8) and one mutation is a large deletion of exons 3 8.

Putative loss-of-function (LoF) mutations were defined as variants that are protein truncating or result in significant alteration of the protein sequence.

In the remaining patients, all tier two variants were filtered to include only those with a minor allele frequency of less than one percent that were either classified as a "disease causing mutation" in HGMD or predicted to be protein truncating [ 25].

The vast majority of TSC1 mutations in TSC disease are predicted to be protein truncating in nature, and no significant genotype/phenotype correlations have been observed (2, 5, 45– 45).

To date, all mutations in SCN9A that cause a complete inability to experience pain are protein truncating and presumably lead to no protein being produced.

Finally, class IV includes protein-truncating mutations near the 3′ end of the fourth exon [ 13].

The majority of mutations were truncating mutations (47%).