Figure 3.

Schematic illustration for the location of nine potential pathogenic variants in CFHR5. The CFHR5 protein contains nine functional domains called SCRs, which are drawn as ovals. Variant c.332A>C/p.Gln111Pro is located in SCR2, c.508G>A/p.Val170Met and c.533A>G/p.Asn178Ser are in SCR3, c.776T>A/p.Leu259Termination is in SCR4, c.822A>T/p.Glu274Asp in SCR5, and c.1357C>T/p.Pro453Ser and c.1708T>C/p.Ter570Arg are located in SCR8 and SCR9, respectively. Splicing variant c.790+2T>C is 2 bp downstream of the exon 5–intron 5 boundary. Variant c.1710*168G>T is positioned at 3′ UTR.