Fig. 4

PLP1 structure and all mutations reported in the literature. A, B, C, and D indicate the four transmembrane domains and three loops between them (A–B loop, B–C loop, C–D loop). The PLP-special section (PLP-S) is located near the C domain in the B–C loop. Black mutations had been reported in literatures; yellow mutations were detected in our patients and had been reported in literatures. Green mutations were detected in our patients and hadn’t been reported in literatures. Blue mutations are located at the same position as another pathogenic missense change