Sentence examples for mutations on splicing from inspiring English sources

To assay the effect of these mutations on splicing we opted to introduce the mutated intron sequences at their endogenous locus, instead of within the CUP1 gene as was previously done [ 8, 9].

In silico analysis of effects of the mutations on splicing and RNA folding was performed.

The effect of intronic mutations on splicing was predicted using software at http://www.fruitfly.org/seq_tools/splice.html.html

To exclude the possible effect of silent mutations on splicing, we have used SpliceView and NNsplice softwares.

Thus, using changes in protein expression levels in the context of different intron sequences to assay the effects of mutations on splicing efficiency is a valid approach.

The software provides a tool to predict the effects of mutations on splicing signals and to identify splicing motifs in the sequence of interest.

Therefore, wild-type and missense mutant TSC1 pre-mRNA sequences were screened for effects of mutations on splice site definition using the neural network algorithm (http://www.fruitfly.org/seq_tools/splice.html).html

Although the mechanistic consequences of mutations on splice sites are fairly easy to interpret, evaluating precisely how inherited disease-causing mutations influence the loss or gain of ESE/ESS motifs remains challenging [ 18].

Here we used a Drosophila line with a P-element inserted into the U6atac snRNA gene and analyzed the genome-wide effects of the mutation on splicing and gene expression.

Splicing studies revealed no impact of the c.3909C>G mutation on splicing, whereas the associated complex allele induces minor exon 7 skipping.

In several previous studies, computational tools have been effective in helping to shed light on the impact of a mutation on splicing [ 9, 20, 21] and databases of mutations that may affect splicing have been made available [ 22, 23].