Bathing Suit Variant of Autosomal Recessive Congenital Ichthyosis (ARCI) in Two Indian Patients

Figure 3

Localization of mutations within transglutaminase 1 causing bathing suit ichthyosis. (a) Results of sanger sequencing of patient 1 and 2 to confirm mutations described here. (b) The localization of the 2006 by Oji et al. published mutations p.Arg315Cys/His, p.Arg126Cys, p.Arg389Pro, p.Arg264Trp/Gln, p.Tyr276Asn, p.Arg687His, p.Arg307Gly (Oji, V. et al. 2006), and the two mutations p.Val383Met and p.Gly278Arg found in two Indian children is depicted within a three-dimensional model of transglutaminase 1. The well-known mutation p.Arg307Gly was also found in the two Indian children. Three-dimensional modeling of transglutaminase 1 isoform 1 was performed by using the online in-silico protein structure prediction tool SWISS MODEL (Swiss institute of Bioinformatics, SIB). For structural alignment the structure of transglutaminase 3 was used as template. (b) Results of sanger sequencing of patient 1 and 2 to confirm mutations described here.

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