Figure 1: rs3215227 encodes a micro deletion in the 3’ splice site (3’ss) region of RGS9 intron 13.
RGS9 gene architecture, annotated with mammalian conservation scores and splicing cis-elements (i.e. branch point, polypyrimidine tract, 3’ splice site (3’ss), shaded tan) are displayed. The five nucleotide microdeletion located 72 nucleotides upstream of the 3’ss encompassing a predicted binding site for the splicing repressor PTB is shaded blue. Additional predicted PTB binding sites are underlined in blue. The regions used to design RNA probes for in vitro binding assay are indicated below the gene sequences.