Figure 1.

HNRNPU gene (transcript ENST00000283179.9, Human Genome Build GRCh37). Boxes indicate exons, lines introns. First amino acid of each exon shown above. Mutations from patients in this series shown below gene. Functional domains shown below gene: circle shows the SAP domain (putative DNA binding site), area between diamonds is B30.2/SPRY protein-protein interaction domain, triangles indicate RNA-binding RGG box. [Color figure can be viewed in the online issue, which is available at http://onlinelibrary.wiley.com/journal/10.1002/(ISSN)1552–4833.]