Sentences with phrase «splice donor site»

The disease - causing mutation was identified as a 4 bp deletion in a splice donor site in the Mfrp gene that leads to the skipping of exon 4.

This introduces a stop codon in the sequence of the normally spliced transcript and it also creates a new splice donor site in exon 2.

Not exact matches

The tool help studying intronic and exonic mutations affecting pre-mRNA splicing signals acceptor / donor splice sites as well as branch points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencersplicing signals acceptor / donor splice sites as well as branch points or auxiliary splicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing Silencersplicing signals such as Exonic Splicing Enhancers (ESE) and Exonic Splicing SilencerSplicing Enhancers (ESE) and Exonic Splicing SilencerSplicing Silencers (ESS).

It also contains new matrices to evaluate the impact of mutations on rare donor splice site motifs.

The mutation is a G → A substitution at c. 1473 + 1, which destroys a splice donor recognition site in intron 10 and causes exon skipping that results in a frameshift and the introduction of a premature termination codon [129].