Fig. 1

Structure of THAP1 gene with the detected heterozygous missense variant c.14G>A (p.Cys5Tyr) in our proband (Source: co-author Michal Cibulka; created in BioRender). 1,2,3- exons, bp – base pair, aa- amino acid, ATG- start codon (methionine), TAA- stop codon, c14G/A – substitution of adenine for guanine in the position 14 of coding sequence, p.5Cys/Tyr – substitution of tyrosine for cysteine in the position 5 of polypeptide chain