Figure 4

Location of nonsense mutation in MPS001 (X) and in frame deletions in Family MPS002 (red triangle) and Family MPS003 (black triangle) in relation to exon structure and RYR1 protein domains. Malignant Hyperthermia/central core disease mutation hot spots shown as stippled boxes, SPRY2 interacting domains 1,2 & 3 as grey boxfibres, Homer binding motifs as hatched boxes.