Fig. 1: Locations of novel rare variants in DAB1.

(a) The presented DAB1 structure is based on ENST00000371236.2 (GRCh37.p13). (b) The presented protein structure of DAB1 is based on the Human Protein Reference Database. Red dotted lines and arrows indicate the locations of each novel rare variant in DAB1. p.V129I is located in the phosphotyrosine-binding (PTB) domain, and p.G382C is in the C-terminal region. (c) Sanger sequencing traces illustrating the novel rare variants. Arrows indicate the mutated sites. The encoded amino acids are shown at the bottom in blue.