Fig. 2

MYH7 mutation p.Glu500del. (A + B) Electropherograms from Sanger sequencing of DNA from blood of A patient 1 (top row) and his parents show the 3-bp in-frame deletion in exon 15: MYH7 (NM_000257.3) c.1498_1500delGAG p.(Glu500del) heterozygous, de novo. B Patient 2 (top row) and his parents: the 3-bp in-frame deletion in exon 15 is present in patient 2 (top row) and also in a fraction of approx. 38% in DNA from blood of the father, as estimated from the area under the curve of the three bases after the frameshift in the electropherogram (bottom row). C Graphic representation of the 1935-amino-acid human beta myosin heavy chain polypeptide and location of p.Glu500del. Domains adapted from Colgrave 2014 and derived from the reference-sequence NM_000248.2: head domain (aa 1–847, blue) including the actin-binding domain (aa 655-677 and 757–771), relay-loop (aa 490–513, green), neck-domain (aa 848–1216, orange), rod-domain (aa 1217–1935, red). D MSA of Myh7 orthologs: Homo sapiens (NP_000248.2), Mus musculus (NP_542766.1); chicken, Gallus gallus (NM_001001302); Xenopus laevis (NM_001091682); Danio rerio (NP_001070932.2); scallop, Argopecten irradians (X55714.1); Caenorhabditis elegans (NP_724006.1), Drosophila melanogaster (NP_724006.1), Arabidopsis thaliana (NP_188630.1), Saccharomyces cerevisiae (NP_014971.1), Dictyostelium discoideum (XP_645195.1), Saccharomyces cerevisiae (NP_014971.1). The deleted amino acid position p.Glu500del is indicated by a box. The conserved relay loop (aa 490–513) is indicated by a double-headed arrow