Figure 2. .

Genomic mutation in GRIK2. a, Schematic representation of the GRIK2 wild-type allele. Physical coordinates (top) are according to NCBI build 36.1. Exons are depicted by numbered arrowheads. Black shading indicates unaffected sequence, gray shading indicates deleted regions, and the inversion is white outlined in black. A checkered pattern marks the uninverted sequence fragment 5′ of the deletion of exons 7 and 8. Squares, circles, and diamonds mark the positions of the deletion and inversion borders. Rectangular symbols below the schematic of GRIK2 mark the locations of regions of low sequence complexity or repetitive elements. b, Schematic representation of the GRIK2 mutant allele and the sequences of the 5′ and 3′ genomic junction fragments. LINE = long interspersed nuclear element; SINE = short interspersed nuclear element.