Supplementary Figure 1.

Analysis of the novel intronic DMD mutation identified in this case report (c.9649+4A>T, intron 66) using the Human Splicing Finder (HSF) algorithm. A) Comparison between the reference (wild-type, WT) and mutated DMD sequences, encompassing exon 66 (upper case nucleotides letters, 86 base pairs) and 100 intronic nucleotides at exon ends (lower case letters). The highlighted blue sequences were analyzed by HSF and MaxEntScan predictors. Green and red letters indicate the WT and mutated nucleotide change, respectively. B) Raw and interpreted tables show relevant results related to the mutation position and context. Variations in the tables were depicted in colored boxes, according to the scale showed in the upper panel. c.9649+4A>T was predicted to affect splicing by disrupting a WT donor site (note the reduction in the raw scores when compared WT DMD vs mutant sequence).