Fig. 2

a DNA sequence alignment. HomoRefSeq: the human reference gene sequence; rs727504167, the GenBank single nucleotide polymorphism reference rs727504167 in the database (pathogenic allele). Three sequence variants were identified for the patient and his mother. The arrows indicate the position of nucleotide substitution/deletion. b Aligned sequences of amino acid residues, p.Ser192Alafs causes a frameshift leading to a premature stop codon