Fig. 4
From: First submicroscopic inversion of the OPA1 gene identified in dominant optic atrophy – a case report
Fine mapping of the structural variant by sequencing of breakpoint junctions. a Schematic representation of the structural variant. The color of the arrows indicates normal sequence (grey), inverted sequence (yellow), inserted sequence (blue) and deleted sequence (pink). b Sanger sequencing of breakpoint amplicons. The vertical dashed lines highlight the 5´ and 3′ breakpoints. The background colors of the electropherogram correspond to the scheme shown in (A). The deleted sequences are indicated by pink triangles. Note that the inserted sequence is actually “leftover original sequence” between the deletion and inversion events