Figure 1.

Spectrum and location of the SRCAP truncating variants

Schematic representation of the SRCAP protein (GenBank: NP_006653.2), its functional domains, and variants used in this study. Exon structure, based on GenBank: NM_006662.3, is provided by dashed lines. Green, HSA-domain (124–196); blue, helicase ATP-binding (630–795) and C-terminal (2,044–2,197) domain; black, AT-hooks (2,857–2,869; 2,936–2,948; 3,004–3,016). Locus, predicted to escape NMD (<55 bp from the last exon/intron junction), is shown in red. Proximal and distal truncating SRCAP variants identified in this study are shown in orange and green, respectively. Floating-Harbor syndrome-causing variants are depicted in purple (recurrent and the most distant variants are specified). Black dots indicate samples used for DNA methylation analysis.