Figure 3

Variants in the SORD gene detected in this study. Upper part - The structure of the SORD gene with nine coding exons. Middle part - Sanger sequences of variants detected in the study; detected novel variants are in pink. HET - hetrozygous; HOM-hoomzygous. Lower part - The conservation of amino acids based on a multiple sequence alignment analysis for missense variants detected in the study (https://www.ebi.ac.uk/Tools/msa/).