Fig. 4
From: A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings
Molecular analysis of CDS patient and bioinformatic evaluation of the identified mutation. (a) Electropherogram of ABHD5 exon 6 sequence harboring the c.811G > A mutation in homozygous status in patient, in heterozygous status in parents and compared to a control sequence; (b) Secondary structure of ABHD5 (p.G271R) compared to wild-type ABHD5 protein. The p.G271R missense mutation causes modifications of the protein structure at position 171 (from α- helix to β-sheet), 218 (from α- helix to coiled-coil) and 269 (from coiled-coil to α- helix). The alterations are marked by rectangle. p.G271R amino-acid substitution is indicated by arrow; (c) Predicted 3D model of ABHD5 and ABHD5 (p.G271R) protein. The p.G271R mutation determines conformational changes of protein folding