Fig. 1.

Identification of the p.Val34Gly mutation in family 1. A) Family pedigree; B) Direct sequencing of PCR products of exon 1 demonstrates two overlapping peaks of the heterozygous c.101T > G mutation; C) Alignment of all human muscle and non-muscle myosins of class II with the conserved residues boxed. MYH1 (NM_005963), MYH4 (NM_017533), MYH2 (NM_017534), MYH8 (NM_002472), MYH3 (NM_002470), MYH13 (NM_003802), MYH7 (MN_000257), MYH6 (NM_002471), MYH9 (AB191263), MYH10 (NM_005964), MYH11 (NM_002474), and MYH14 (AY165122); D) Ribbon structure of the smooth muscle myosin motor domain (1br2). The side chain of Val34 (in the pdb numbering Val37) is indicated in red. The side chains of surrounding hydrophobic residues (I49, V57, V59, L61, L70 and I75) are shown in blue.