Sentence examples for at a splicing from inspiring English sources

We found one frameshift mutation, one point mutation at a splicing acceptor site, and a number of missense mutations in infertile patients.

Using variants from a number of different studies, ASSEDA accurately predicted experimentally determined changes in binding at a splicing regulatory site 75% of the time (N = 12).

Prp19 contains an U-box motif for ubiquitin ligase at its N-terminus, a coiled-coil domain for tetramerization at central region and a WD40 repeat domain as a splicing scaffold at its C-terminus [ 87– 90].

An RS domain tethered at an exonic splicing enhancer can function as a splicing activator, and RS domains play prominent roles in current models of SR protein functions.

Here, we report a male patient with CLS having a novel mutation at the 3′ end of an exon at a splice donor junction.

This mis-pairing can arise at a splice junction boundary when there is sequence similarity between the 5' end of the intron and the 5' end of the downstream exon.

The tre1sctt mutation results in an AG to TG mutation at a splice acceptor site that abolishes correct splicing resulting in the utilization of a cryptic splice acceptor site and the loss of the first 24 base pairs of exon 5 (Figure 2A).

In addition, rs2287498 in WDR79 (in perfect LD with rs2078486 and in LD (R2 = 0.62) with rs12951053) is predicted to affect function at a splice site and a non-synonymous variant (rs2287499) in WDR79 in weak LD with the two most highly associated TP53 SNPs is predicted by PolyPhen [32] to be benign.

All genes with at least one non-synonymous mutation in their coding sequence or at a splice-site were taken into account, and matched to Ensembl IDs.

The point of discrepancy in exon 3 is not at a splice site, therefore this unusual EST might represent a cloning artifact.

The mutation in gene GRIN2B occurs at a splice site, whereas the other two are missense mutations in exons 5 and 26 of LAMC3 and SCN1A, respectively.