Fig. 4

Genetic Results: Pedigree analysis, localization of COQ2 variants, and next generation sequencing (NGS) pile-ups. a Localization of novel and reported COQ2 variants in protein (NP_056512.5) and RNA (NM_015697.8) transcripts using the Illustrator for BioSequence (IBS) tool [30] Red boxes represent transmembrane domains per Forsgren et al. [31]; blue box represents an allylic polyprenyl diphosphate substrate-binding site (APDSBS); variants in light blue boxes are frameshift or non-sense variants; missense variants in yellow boxes are reported in patients with severe multisystem disease presentation; missense variants in green boxes are reported in patients with nephrotic syndrome with /without neurological symptoms; missense variants in purple boxes are reported in patients with multiple system atrophy; retinitis pigmentosa, and in the current study. b Conservation of p.Arg126Gly variant across multiple species and localization in the 4-hydroxybenzoate polyprenyl transferase domain. c NexGENe pile-ups demonstrating that the two COQ2 variants are in trans in the youngest proband indicating compound heterozygous inheritance