Figure 1.

(A) Schematic illustration of the functional domains in human ERK2. Triangle indicates the missense mutation identified in the current study. Figure not to scale. (B) Electrophoretogram obtained from Sanger sequencing of the MAPK1 gene in the patient. The dashed line indicates the c.961G>A point mutation detected. (C) Ribbon diagrams of wild-type and mutated human ERK2 proteins depicting predicted structural changes resulting from the identified MAPK1 mutation, including alterations in the C-terminal docking (CD) domain. Structures were prepared from protein data bank file 4S31.