Figure 1

Schematic overview of the FMR1 and ASFMR1 isoforms. Diagram representing the FMR1 locus (top), 4 FMR1 isoforms (Iso10, Iso10b, Iso4 and Iso4b) and the ASFMR1 Iso131bp. Exons are represented in different colors and the alternative splice sites are depicted for exon 12, 14,15 and 17. FMR1 isoforms Iso10, and Iso10b both miss exon 12 and 14 but differ for the splicing acceptor site in exon 17. Likewise, the FMR1 Iso4, and Iso4b both miss exon 14 but differ for the splicing acceptor site in exon 17.