Figure 3.

Location and conservation of protein-coding variants in COL8A1. A, Location of rare protein-altering variants identified in age-related macular degeneration (AMD) patients and control participants in the different COL8A1 domains: triple-helical region (COL1), noncollagenous domain 1 (NC1), and noncollagenous domain 2 (NC2). Variants detected only in control individuals are depicted in gray. B, Alignment of COL8A1 protein sequences of different species. Boxed missense variants identified in AMD patients, predicted to be deleterious in all conservation and pathogenicity tests (Table 1), affect highly conserved glycine residues in the NC1 domain.