Fig. 3.

Predicted Isoforms and Relative Abundances as a Consequence of ATM splice variant c.3747-1G > A. Intronic ATM variant c.3747-1G > A abolishes (11.0 to 0.1 bits) the natural acceptor of exon 26 (total of 63 exons). a ASSEDA predicts skipping of the natural exon (R _i,total from 14.5 to 3.6 bits [a 1910 fold decrease in exon strength]; isoform 7) and/or activation of a pre-existing cryptic acceptor site 13 nt downstream (R _i,total for cryptic exon = 9.0 bits; isoform 1) of the natural site leading to exon truncation. The reading frame is altered in both mutant isoforms. The other isoforms use weak, alternate acceptor/donor sites leading to cryptic exons with much lower total information. b Before the mutation, isoform 7 is expected to be the most abundant splice form. c After the mutation, isoform 1 is predicted to become the most abundant splice form and the wild-type isoform is not expected to be expressed