Neurodegeneration in Friedreich’s Ataxia: From Defective Frataxin to Oxidative Stress

Figure 2

Mapping of amino acids mutated in FRDA compound heterozygous patients. FRDA mutations indicated on the human frataxin structure (PDB: 3S4M): Lys106Ser, Asp122Tyr, Gly130Val, Asn146Lys, Gln148Arg, Ile154Phe, Trp155Arg, Leu156Pro, Arg165Cys, Trp173Gly, Leu182Phe, Leu182His, and His183Arg. The arrow denotes a 90° rotation.