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. 2011 Dec 9;89(6):767–772. doi: 10.1016/j.ajhg.2011.10.016

Figure 2.

Figure 2

Schematic Representation of KIF22 Protein and Mutations Found in Individuals with Lepto-SEMDJL

(A) Functional domains of KIF22; the mutations found in lepto-SEMDJL patients are located on two adjacent amino acid residues in the motor/catalytic domain.

(B) Crystal structure of the motor domain of KIF22, generated with Research Collaboratory for Structural Bioinformatics-Protein Data Bank (RCSB-PDB), viewer Protein Workshop (see Web Resources; deposition: 2007-11-22; release: 2007-12-04; last modified 2011-07-13). The two contiguous residues mutated in lepto-SEMDJL (Pro148 and Arg149) are located close to the ATP/ADP binding site.