Where the mutation impacts something more nuanced such as splice site
bias in a particular gene, relative levels of gene isoforms will deviate in the sample from equivalent isoform ratios in control samples.
(2) The mutation spectrum includes nonsense, missense and splice site
variants, many of which result in substitution of other amino acids for glycine residues in the Gly-X-Y triplets of the major triple helical domain of the collagen protein.
In N63, a novel germline variant of MAX (c.397-2A>G), affecting splice site
and pathogenic for the protein function, was detected.
Spliceosome is a complex and highly dynamic molecular machinery that recognizes the splice sites
and removes introns from precursor messenger RNAs (premRNAs) [39, 40].
The nucleotide exchange is located in intron 8 and affects the donor splice site
of exon 8.
In this report, we describe, for the first time, a novel heterozygous splice site
mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, facial dysmorphisms, and congenital heart defects amongst other symptoms.
* is the alternative splice site
between exons 6 and 7.
In addition, all splicing modes are consistent with the canonical 5'-GU--AG 3'-donor--acceptor splice site
Hb E is formed by a substitution of glutamic acid by lysine at codon 26 of the [beta]-globin gene as a result of a splice site
mutation on exon 1 of the beta-globin gene.
These are classified into two groups which are referred to ac cording to their terminal exon (exon 8) splice site
: the proximal splice site
(de-noted [VEGF.sub.xxx]) or distal splice site
The software used was Human Splicing Finder v.2.4.1 (Desmet et al., 2009), and by means of Alternative Splice Site
Predictor (Wang and Marin, 2006) the presence of cryptic splicing sites (css) was tested.
Feature selection for splice site
prediction: A new method using EDA-based feature ranking" BMC Bioinformatics 5: 64 (2004)