ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1–3 and ABCD4 in Subcellular Localization, Function, and Human Disease

Figure 4

Distribution of the missense mutations reported in X-ALD patients. 209 different amino acids with single amino acid substitutions have been identified. Based on the X-ALD database, G266R, R401Q, R518Q, R554H, P560L, E609K, R617H, and R660W are the most frequent. The mutant ABCD1 proteins, such as G266R, R401Q, and R554H, are unaffected in terms of protein stability. In contrast, mutant ABCD1 proteins with missense mutations (R518Q, P560L, E609K, R617H, and R660W) in COOH-terminal nucleotide-binding domains are decreased or not detected in the corresponding patient fibroblasts.