Fig. 3.

a Multiple alignment of a segment of the human CNTNAP2 protein with the corresponding segments in some of its homologues. The top sequence shows the mutated human sequence and the arrow indicates the I1124N mutated position. b Schematic protein structure of CASPR2/CNTNAP2 showing novel p.Ile1124Asn variant. c (Left) CASPR2 structure of human gene CNTNAP2; (right) purple highlighted is the residue that indicates the mutated position (I1124N). Current variant is located within a domain, annotated in laminin G-like 4. Due to the large size and less hydrophobic properties of the mutant, residue can cause the loss of hydrophobic interactions of this domain and would abolish the normal function of CASPR2.