Sentence examples for missense variation from inspiring English sources

The PCR product was analyzed by direct sequencing that disclosed a missense variation sequence 1811G > A that causes at protein level a replacement of arginine with histidine (R604H).

The analysis was carried out in both the parents; the mother was negative while the father, who was asymptomatic, carried the missense variation sequence 1811G > A.

During the analysis of healthy controls, we found in one case a missense variation sequence 5782C > G that causes at protein level a replacement of arginine with glycine (R1928G).

Rare missense variation in known Mendelian disease genes is prevalent in both groups at similar complexity, revealing that even deleterious ion channel mutations confer uncertain risk to an individual depending on the other variants with which they are combined.

Both coding region changes, a nucleotide substitution predicted not to alter the amino acid sequence of prestin, p.S434S, and a nucleotide substitution predicted to result in a missense variation, p.I663V, were found only in patients.

In addition, the Celera database includes a missense variation, p.I67V, however, nothing is known about the hearing status of the individual carrying this variant, prohibiting audiometric assessment of its potential pathogenicity [17].

Seventy-three missense variations affecting 33 genes were detected.

Seventy new missense variations were detected here (Table 3).

Eight of these novel variations occurred in mRNA region, and five were missense variations (Table 2).

The detected missense variations were genotyped on 200 controls by DHPLC.

We asked whether OR genes harbor an unusually high frequency of missense variations.