Fig. 1: Electropherograms of two family samples.
From: Two novel heterozygous variants in ATP1A3 cause movement disorders
A Sanger sequencing reveals that the c.2408G>A variant (arrow) occurred de novo. B Family pedigree and electropherogram results of family samples. Sanger sequencing denotes that the c.2672_2688+10delinsCAG variant is inherited from patient 2’s affected mother. C Electropherograms of wild-type (top) and variant (bottom) PCR clones of the proband. A 27-bp deletion (dashed lines) and 3-bp (CAG) insertion (red square) occurred at the exon 19 – intron 19 boundary in the variant allele. D Schematic representation of the ATP1A3 gene structure and electrophoresis of RT–PCR analysis using cDNA derived from the patient and a control. Black boxes, lines and light blue arrows denote the coding exons, introns and RT–PCR primers, respectively. The patient showed two bands of different sizes (black and red arrows). The largest sized band (white asterisk) found in the patient was digested with T7 endonuclease I, indicating heteroduplexes. WT, wild-type, VT, variant. (E) cDNA sequences (upper) and amino acid sequences (lower) of WT and variant. Electropherograms of the variant show a 17-bp deletion (dashed line) at the 3′ end of exon 19 and a 3-bp (CAG) insertion and 38-bp intron retention of the 5’ end of intron 19 (red arrow). This indel variant caused in-frame amino acid alteration, and 6 amino acid residues of WT (from Ser891 to Trp896, blue box) were replaced with another 14 amino acids (red box).
