Fig. 3From: Autosomal dominant optic atrophy caused by six novel pathogenic OPA1 variants and genotype–phenotype correlation analysisAll 11 OPA1 mutations identified in this study are shown in the schematic diagram of the OPA1 gene (Ref. NM_015560.2, below) and OPA1 protein (above). Missense, splicing, stop-gain and frameshift deletion mutations are coloured in black, blue, red and yellow, respectively. CC, coiled coil domain; GE, GTPase effector domainBack to article page