Sentence examples for mutations generated missense from inspiring English sources

Each of these mutations generated missense aminoacid substitutions (Sato et al. 2002).

In addition, amino acid sequence analysis of hMYH protein illustrates that the haplotype T/A substitutions is predicted to generate missense mutations of p.Pro18Leu and p.Gly25Asp, respectively, and then mapped near to the functional N-terminal mitochondrial targeting sequences (MTS) domain [ 15, 16].

While mutations such as deletions, frameshifts, and nonsense mutations generate truncated proteins, missense mutations often lead to unstable proteins as judged by immunofluorescence microscopy.

Deletions, insertions and missense mutations generating a STOP codon were scored as high-impact mutations (score 3).

Forty mutations are described in the γ-sarcoglycan gene (SGCG), 16 missense mutations generating a full protein with a single residue substitution (Fig. 5) and 24 that generate a truncated protein or no protein at all.

We also identified a novel maternally inherited c.437C>T mutation, generating a proline to leucine missense mutation (p.P146L) in a conserved region of the H6PDH protein.

We identified four frameshifts within homopolymeric repeats, a nonsense mutation generating a truncation, and a missense mutation within a transmembrane region.

The top shows truncating mutations, while the bottom shows the missense mutations we generated.

The most accurate mouse models of Li–Fraumeni TP53 missense mutations were generated by gene knockin (Table 1).

To confirm whether the conserved amino acid residues of the HKD motifs in Arabidopsis also contribute to the active site, we generated several missense mutations of these residues (Table 2 and Supplementary Figure S6B).

The R270H missense mutation was generated as described previously (de Vries et al., 2002).