Figure 4 of Shiels, Mol Vis 2008; 14:2042-2055.


Figure 4. Schematic diagram showing gene structure and protein domains of EPHA2. A: Exon-intron organization, mutation profile and protein domains. Intron sizes are shown in base-pairs (bp), and codons are numbered below each exon (boxes). The approximate locations of protein domains are indicated. SP, signal-peptide; Eph-lbd, Eph-receptor ligand binding domain; EGF-like, epithelial growth factor-like region; Fn-3, fibronectin type-III domain; Tm-1, transmembrane domain type-1; Pkinase-Tyr, protein tyrosine kinase domain; SAM, sterile-α-motif. The predicted p.G948W missense mutation identified in family Mu is proposed to reside in the cytoplasmic SAM domain. B: Amino acid sequence alignment of the SAM domain from human EPHA2 and orthologs from other species, showing conservation of p.G948. Divergent amino-acids residues are shaded. The SAM domain comprises an NH2-terminal extended strand (dots), 5 α-helices (H1–5, over-lined), and a core sub-unit (bolded). The proposed p.G948W substitution likely resides between H-4 and H-5.