Figure 5.

GMPPB Mutations Can Cause Mislocalization of GMPPB in Cultured Myoblasts

C2C12 myoblasts were transfected with GMPPB pcDNA 3.1 V5/HIS-TOPO that was either wild-type or had the missense mutation c.1000G>A (p.Asp334Asn), c.64C>T (p.Pro22Ser), c.553C>T (p.Arg185Cys), c.95C>T (p.Pro32Leu), c.860G>A (p.Arg287Gln), c.79G>C (p.Asp27His), or c.988G>A (p.Val330Ile). Compared to the wild-type, the mutations c.1000G>A, c.64C>T, c.95C>T, c.860G>A, and c.988G>A caused the protein to localize differently and aggregate, whereas the mutations c.553C>T and c.79G>C did not visibly alter the subcellular localization of GMPPB and the enzyme remained distributed evenly in the cytoplasm.