Fig. 5
From: Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Chromatogram, multiple amino acid alignment, and 3D protein structure. (A) The chromatogram for the c.601dup found in the family in exon 6 of ABHD12 is highlighted in blue. Patient individuals are homozygous (IV.1, IV.2), and their parents are heterozygous (III.1, III.2). (B) Schematic representation of filtering strategies used in this study (C) The wild-type model structure of ABHD12 protein (left side) and p.Val 201GlyfsTer4 protein (right side). Sequencing analysis showed a novel frameshift variant resulting in premature stop codon of ABHD12 (bottom side)