S1 File - OBSCN Mutations Associated with Dilated Cardiomyopathy and Haploinsufficiency

A. Table of muscle samples studied and putative disease-causing mutations found. B. Patient data for the donor heart muscle used as controls in this study. C. WES sequencing protocols: left, list of genes tested for mutations, right filter conditions used to find the potential disease-causing mutations. D. Alignment of Obscurin B isoforms in human, mouse, mole rat and turtle. Only the regions of the sequence with mutations are shown. E. Domain diagram of the two large muscle isoforms of obscurin. Location of mutations and the epitopes of Ob13, Ob58 and Ob59 are shown. F. Relative Obscurin mRNA content of heart muscle samples normalised to GAPDH mRNA. G. Relative obscurin protein expressed in whole homogenates of heart muscle. A) Western blots of whole heart muscle homogenates separated by SDS- PAGE (See Fig 2). Top Memcode protein stain, bottom Ob59 anti-obscurin antibody. B) Calculated relative obscurin levels using the method as shown in Fig 3. Results from individual lanes are shown. C) Relative proportions of the three obscurin bands in atrial and ventricular muscle homogenates. (PDF)