Figure 1. Schematic representation of the
MRP6 protein. The protein contains 17 membrane-spanning domains and two
intracellular nucleotide binding folds (NBFs). The percentages in the
figure show how the mutations in our population are distributed over
the different domains of the protein. The eighth cytoplasmatic loop is
the most frequently mutated domain, followed by the region between the
last transmembrane-spanning domain and NBF2 and by NBF2 itself.
Del=deletion. In addition, 1% of the population had a deletion of the