Figure 1.

RPGRIP1 protein structure and location of amino acids changes identified in this study. Schematic representation of the protein domains (modified from Roepman et al²¹; GeneBank NP_065099) highlighting the location of the C2-domains region. All amino acids changes identified in the discovery group are listed upward; changes identified in the replication group are listed below the structure. Green bars represent coiled-coil domains, orange bar the RPGR-interacting domain, light yellow and green bar the C2 domains, white bars leucine zipper domains and dark bar the bipartite nuclear localization signal.