Figure 1

Naturally occurring missense substitutions in human MCT8. In this table naturally occurring pathogenic amino acid substitutions known for MCT8 are summarized. Specific background-colours indicate structural/functional and biophysical specificities: violet – mutations at or to proline/glycines, respectively; red – side chain substitutions in the vicinity of the presumed substrate channel (figures 2 and 3); green – amino acids pointing towards the membrane. We also provide a summary on conservation of respective amino acids within the MCT family based on the alignment in figure 4 (bold are positions where more than half of the MCTs have an identical amino acid). The unified position numbering suggested in a recent study [7] is provided (for description see section Material and Methods).