Sentence examples for missense alterations from inspiring English sources

The VarCall analysis provides a more granular view of segments important for function and revealed secondary structures in the BRCT domains that are unexpectedly tolerant to missense alterations.

Three novel nonsynonymous missense alterations were detected.

We identified a novel mechanism in which common missense alterations may contribute to complex disease.

DYRK2 was found to be mutated in breast and central nervous system tumors, in nonsense and missense alterations, respectively [11], [35].

Three nonsynonymous (missense) alterations were detected.

It also identified a few missense alterations in PCAF and intronic sequence variants in CBP.

The missense alteration c.739G>T (p.Ala247Ser) was tested for possible pathogenicity by using PolyPhen software.

For this reason, hMLH1 missense alteration I219V was included in the assay as the functional control.

The variant of codon 84 was a missense alteration that converts L (CTT) to F (TTT).

This missense alteration converts amino acid leucine to tryptophan at codon 246 of BRCA1.

Rs13190932 is also a missense alteration (Arg74Trp) in the protein sequence (a positive electric charge changed to neutral).