Significats de splice donor en anglès

The top intronic motif is the splice donor site.

Consequently, the normal splice donor site is disrupted and an internal cryptic splice site is activated.

No common protein-coding variation, variants in splice donor or acceptor sites, or copy number variation events were observed.

Further, we show that optimization of the weak splice donor site of exon 11 corrects the splicing defect.

Whole-exome sequencing of a patient with intellectual disability and without recognisable phenotype yielded a mutation in the intron20 splice donor site of CREBBP.

These data show for the first time that a splice donor site mutation in the myosin-binding protein-C gene is transcribed to cardiac mRNA.

It results from a single point mutation, which alters an invariable nucleotide in the splice donor site after exon 16 of the Trf gene.

A four-nucleotide insertion into a splice donor site results in exon skipping, translational frameshift, and protein truncation with loss of the alpha 1-binding site.

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

We report the identification of a splice donor mutation in a novel gene, which is the mouse ortholog of a newly discovered telomeric regulator.

Mutations at different positions within the same intron20 splice donor site were observed in three patients clinically suspected as having Rubinstein-Taybi syndrome (RSTS).

The activity of this segment was mapped to the major splice donor and sequences overlapping with, but functionally distinct from, a previously described transcriptional enhancer.

The mutant allele triggered the efficient use of an ectopic 5' splice donor site located at nucleotides 90-91 of exon-3.

Polymorphism screening revealed the existence of an imperfect CT repeat polymorphism located near the exon 9-intron 9 splice donor site.

No mutations were observed in the splice donor, splice acceptor, or pyrimidine-rich sequences of the intronic regions flanking exons 5 and 6.

A previously described 28-bp deletion at the COL2A1 exon 12-intron 12 junction, deleting the splice donor site, was identified in the fifth case.