Fig. 1: The patient’s genetic test result and pathogenicity of the variant. | Experimental & Molecular Medicine

Fig. 1: The patient’s genetic test result and pathogenicity of the variant.

From: Allogenic mitochondria transfer improves cardiac function in iPS-cell-differentiated cardiomyocytes of a patient with Barth syndrome

Fig. 1

a Sanger sequencing confirmed a novel heterozygous novel variant, c.137A>T (p.Asn46Ile) (NM_000116.3) in TAFAZZIN, which had been identified by targeted exome sequencing of the patient’s genome, which is indicated by the red arrow. Alignment of the predicted amino acid sequence of TAFAZZIN among different species is indicated by the dotted red box. Sequences were aligned with blastp (https://blast.ncbi.nlm.nih.gov/). b Wild-type and c mutant residues (p.Asn46Ile) in TAZ are colored light green and represented as sticks alongside the surrounding residues, which are involved in any type of interaction. Blue dots represent halogen bonds, red dots represent hydrogen bonds and orange dots represent weak hydrogen bonds. The crystal structure of the domain from wild-type TAZ was generated by SWISS-MODEL (https://swissmodel.expasy.org/) and is depicted as a cartoon representation. d Results from other predictive tools (NMA-based and other structure-based approaches) displayed to predict the mutation effect using the Dynamut web server with the normal mode analysis function (http://biosig.unimelb.edu.au/dynamut/). A visual representation of the Δ vibrational entropy energy is shown in which the amino acids are colored according to the vibrational entropy change upon mutation. Red regions indicate a gain in flexibility.

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