Fig. 2

a Electropherogram of the sequence surrounding the heterozygous mutation in KCNH2 from the proband’s genomic DNA. b Scheme of cDNA region involved in c.46delG variant. Nucleotides are separated into triplets (codon) with their corresponding amino acid. The deletion of guanine located at position 46 (asterisk) in exon 1 (codons marked in white) of KCNH2 gene produces a reading frame shift in the mutant allele that generates a premature stop codon in exon 2 (codons marked in gray) resulting in a truncated protein