Figure 2

Figure 2

Identification of the MYH7 heterozygous variant in the selected Iranian family. (A) Schematic diagram shows the human MYH7 locus and the enlarged sequences of exon 18 of this locus, along with the sequences of the MYH7 variation. The yellow region is the exon 18 sequences from MYH7. Green letters are wild-type DNA and the amino acid motif in the unaffected family members. Red letters indicate the substituted (C–A) target nucleotide in the MYH7 and the p.Leu655Met alleles in the affected family members. (B) Sequence chromatograms of the MYH7 novel variant loci which were found in this study. The results of Sanger sequencing from affected, unaffected, and control DNA samples confirmed that the variation was inherited from one of the parents in a heterozygous pattern. (C) Evolutionary conservation of MYH7 in the actin-binding site domain shows that this region of protein is highly conserved throughout all species, especially in Leu655.