The transcript analysis results demonstrated splice complexity with several variants resulting in two or more transcript isoforms.
Lines 250-251 and 263-265– In these lines the authors discuss transcripts in which the encoded proteins lack some beta strands. The lack of these protein structures are used as evidence to support pathogenicity. It is not clear from the text how lack of these beta strands is predicted to impact protein function. Is there evidence from another source that these beta strands are critical to protein function and that their loss is deleterious (rather than resulting in normal or slightly reduced protein activity)?