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. 2021 Apr 16;9:660076. doi: 10.3389/fped.2021.660076

Figure 1.

Figure 1

Results of genetic testing. (A,B) Whole exome sequencing results in a patient with a finding of biallelic variants in the VARS2 gene, heterozygous variant c.2758T>C (p.Tyr920His) and heterozygous variant c.1168G>A (p.Ala390Thr). (C) Sanger sequencing confirmed both variants in the patient. Heterozygous variant c.2758T>C (p.Tyr920His) was found in patient's mother and heterozygous variant c.1168G>A (p.Ala390Thr) was found in patient's father. These findings confirmed biallelic position of variants in the patient, (D) shows phylogenetic conservation of VARS2 protein (NP 065175.4) in various organisms. Multiple sequence alignment was performed with Clustal Omega (https://www.ebi.ac.uk/Tools/msa/clustalo/).