Results from genome sequence analysis of the splice junction regions. Point mutations and single nucleotide polymorphisms (SNPs) are represented in different colors. The letters written in red represent the ESE/ESS motifs identified using the RESCUE-ESE/ISE computational approach (http://genes.mit.edu/burgelab/rescue-ese/), and the mutated base is in bold type. Nucleotide substitutions that are not predicted to create ESE/ESS motifs are indicated in blue.