Fig. 6
From: Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Gene and protein structure. (A) Intron-exon structure of ABHD12 and location of all mutations found up to now. Twenty-nine mutations in ABHD12 associated with PHARC syndrome have been found. The new frameshift variant, c.601dup, is indicated by the purple color in ab hydrolase domain which is indicated by brown color. Black rectangles and black lines represent exons and introns, respectively. ABHD12 has 13 exons. The only difference between the two isoforms is in their last exon, which is indicated by two stop codons in the picture (black frame, isoform 1, and orange frame, isoform 2). Gray rectangles indicate 3′UTR and 5′UTR rejoin. The blue rectangle shows GINS1 gene next to ABHD12 gene. In the 59Kb deletion removes the exon 1 of ABHD12 and exons 1–4 of GINS1 and both promoters. The gray arrows on the top of the image indicate the orientation of the genes. The figure is redrawn from ref [38] (B) MetaDome [31] was used to recognize the intolerant regions in the ABHD12 protein