FIGURE 6.

An overview of AQP4 and GPRC5B variants found in MLC patients. (A) AQP4 is depicted. Exonic regions are indicated by blocks; intronic regions by lines. Exonic regions and intronic regions depicted with a horizontal line are drawn to scale. All variants are indicated above the gene schematic. The resulting peptide alteration is in its relative position. (B) A schematic representation of AQP4 in the membrane. Amino acids of the NPA motif are depicted. (C) As in (A) however here, GPRC5B is depicted with its two peptide alterations. (D) A schematic representation of GPRC5B in the membrane.