Figure 4

Splice site scores shown by exon type and consistency between allele prediction and the GT-AG rule. The average splice site scores for four categories, defined by whether predicted alleles were consistent with the GT-AG rule (consistent; triangle) or not (inconsistent; diamond), and whether they were located at a GT-AG site adjacent to CSE (pink symbol) or to ASE (blue symbol). Numbers in parentheses are numbers of cases and percentages. The six sdSNPs in CE dinucleotides are included in both consistent and inconsistent categories. Averages of randomly selected genes were calculated using values for ARG2 and CFTR genes (gray symbol) in Table 2 of reference [59]. These splice scores were calculated using MaxEntScan [56, 57], and theoretically ideal scores are given in reference [59].