Fig. 3.

Screenshot from the Alamut (Cold Spring Harbor Laboratories) Splicing Predictor/ESE Predictions window around the GALT c.404 C>T variant responsible for the S135L mutation [8,9]. The top box represents the wild type sequence, with a G at position c.665, and the bottom panel representing the mutant sequences, with an A at c.665. In both panels the nucleotides boxed in lavender represent the 3′ end of exon 7. The mutant sequence is predicted to lose binding sites for SF2/ASF (pink/red box).