Sentence examples for mutations truncate the from inspiring English sources

These mutations truncate the protein product resulting in functional inactivation.

Most APC mutations truncate the protein N-terminal to the axin binding domain.

ASPM gene mutations truncate the protein and include deletion, single base pair change, duplication and variation in the intronic region.

Most germline mutations truncate the protein, but two pathogenic missense mutations and one in-frame deletion have been reported.

Most mutations truncate the protein product, but a significant proportion (34% of BRCA1 and 38% of BRCA2 mutations [ 17]) are missense mutations that alter one amino acid, but do not truncate the protein and are of uncertain significance (so-called variants of uncertain significance).

Three missense mutations involve highly conserved cysteine residues within (C114R, C131Y, C162W) the DBD and two further nonsense (R357X) or frameshift/premature stop (FS315X) mutations truncate the receptor within the central part of its LBD, predicting loss-of-function of the mutant proteins.

In spite of that, partial coding regions available for these genes have no mutations truncating the open reading frames or generating stop codons, suggesting that both are functional copies.

The C to T transition created a nonsense mutation, truncating the hMLH1 protein.

This dominantly segregating SLC5A7 mutation truncates the encoded product just beyond the final transmembrane domain, eliminating cytosolic-C-terminus sequences known to regulate surface transporter trafficking.

The cattle MFN2 mutation truncates the last 22 amino acids.

Similar to the K288 ΔsimA mutant, S. iniae WT 02161A strain (with a frameshift mutation truncating the simA ORF) was attenuated compared to strain K288 in the HSB IP challenge model (P<0.005) (Fig. 6A).