Variants
Seventy-one ABCA4 NCSS variants, 81 ABCA4 DI variants and
61 MYBPC3 NCSS variants were evaluated with a selection of splice
prediction tools (Figure 1a, Table 1). The number of variants that alter
splicing and variants that have no effect on splicing is provided in
Figure 1b. Ninety percent (64 out of 71) of ABCA4 NCSS variants
altered splicing, whilst 74% (60 out of 81) of ABCA4 DI variants
had no effect on splicing. MYBPC3 NCSS variants showed a more
even distribution with 56% (34 out of 61) splice altering variants. For
all three datasets, more variants were located near the SDS than the SAS
(Figure 1c). Figures 1d and e show the distribution of variants around
the SAS and SDS respectively for all NCSS variants. On the donor site
most splice altering variants are located at the last exonic position,
and on the acceptor site most splice altering variants are located at
position -3.