Fig. 2

The pathogenic variant of DYSF is linked to limb-girdle muscular dystrophy (LGMD). (A) A family pedigree displaying the DYSF-affected family is presented. Variant carriers are represented in black, while relatives without the variant are in white. The squares denote males, the circles indicate females, and the arrow points to the proband. (B) Sanger-sequencing chromatograms reveal the DYSF variant sequence in the father, mother, sister, brother, and their DYSF-affected son. The arrow highlights the T/C nucleotide position in the wild-type heterozygous father, heterozygous mother, heterozygous sister, heterozygous brother, and homozygous patient. (D) The alignment of the conserved Leu1959 residues from different DYSF protein orthologs was compared using the CLUSTALW server. The Leu amino acids are shown in the box. (D) The image shows the functions and protein interactions of the distinct DYSF regions. The scheme summarizes some of the roles described for different DYSF C2 domains. (E) The image presents a comparison of the interactions between the normal DYSF and the Leu1959Pro variant and calpain-3, annexin A1, and affixin