Figure 4.
Percentage of nonconsensus nucleotides at positions (X-axis) of the 5′ss for five classes of 5′ss: all 5′ss in human (186,630 cases), 5′ss with A at +3 (110,598), 5′ss with G at +3 (64,837), 5′ss with SNPs having alleles A/G at position +3 (93), and 5′ss with disease-causing A-to-G mutations at +3 (50 cases). 5′ss with disease-associated A-to-G mutations at position +3 tend to have nonconsensus nucleotides at positions +4 and +5 more frequently than the other sets, which suggests their disruptive nature, based on the association matrix (Fig. 2).
