Fig. 2.

Fig. 2. Distribution along the CEP76 locus and amino acid conservation of CEP76 variants.

(A) Top: Schematic of human CEP76 transcripts (GRCh38.p14: CEP76 short, ENST00000423709.6; CEP76 long, ENST00000262127.7) generated by Exon-Intron Graphic Maker (http://wormweb.org/exonintron). Black boxes, black lines, and empty boxes represent exons, introns, and UTRs, respectively. Bottom: CEP76 variants identified in affected individuals are shown as lollipops across the length of the CEP76 protein (NP_079175.2). Protein domains were predicted by InterProScan and are shown in blue (CEP76-C domain) and pink (Papain-like cysteine peptidase superfamily) rectangles. Variant positions on CEP76 transcripts are connected by dotted lines. (B) CEP76 missense and nonframeshifting deletion variants are conserved across mammalian species. Multiple sequence alignments were generated with the UCSC genome browser and Clustal Omega. Amino acid color scheme: red, hydrophobic or aromatic (AVFPMILWY); blue, acidic (DE); magenta, basic (RHK); green, hydroxyl, amine, basic, and glutamine (STYHCNGQ). Consensus symbols: The asterisk (*) indicates positions that have a single conserved residue, colon (:) indicates alignment with similar residues, and no symbol indicates residues that are not conserved. Substituted amino acids are indicated with arrowheads.