Figure 4 of Chen, Mol Vis 2014; 20:132-139.


Figure 4. DNA sequence chromatograms and sequence alignment of portion of the discoidin domain spanning the novel missense mutations with other species. A: The DNA sequence chromatograms (sense strand) shows four novel missense mutations: c.451T>C (p.Y151H), c.496T>C(p.Y166H), c.499A>G (p.K167E), and c.581T>A p.I194N (top) and the corresponding wild-type sequences (bottom). B: Multiple species sequence alignment of the portion of the discoidin domain that spans the four novel missense mutations showed the mutations site (arrow) are highly conserved.