The exons of each gene are indicated by numbered boxes, whereas introns are shown by horizontal lines. Their sizes with respect to actual genomic sequence, using canonical transcripts, are roughly proportional, although not to scale. 5' UTRs and 3' UTRs are omitted. The protein size, in number of amino acids (aa), is also indicated. Variants associated with an ocular phenotype (MD, macular dystrophy) and detected in this study (M1 to M23) are shown in various colors above the gene of interest, while variants previously reported in association with spastic paraplegia type 48 (SPG48) are indicated below the gene (only for AP5Z1). These latter DNA changes represent pathogenic or likely pathogenic variants reported in ClinVar as of July 2024, documented in the literature and/or linked to an affected individual. M10, a large deletion affecting the whole AP5Z1 sequence, is indicated by a horizontal line. No clear genotype-phenotype correlation within or across conditions could be detected. Of note, all disease-causing variants identified are presumed loss-of-function alleles, with the exception of M20 in AP5M1, which is a missense (see text for details). The correct HGVS nomenclature for the variant in AP5Z1 c.80_83delins is c.80_83delinsTGCTGTAAACTGTAACTGTAAA.
