Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts

Figure 1

Schematic view of the predicted effect on splicing for the variation c.3879+1 in the MYH11 gene via Alamut Visual Plus. Each line represents a splicing prediction algorithm: Splice Site Finder-like [12], MaxEntScan method [13], NNSPLICE [14], and GeneSplicer [15]. Donor splice sites are illustrated with blue squares. Note that a cryptic splice donor site is present 78 bp upstream the major donor splice site (illustrated in red).