Non-HFE haemochromatosis

Figure 3 Structure of human transferrin receptor 2 (TfR2) and positions of mutations. A: The exon structure of human TfR2 is shown with positions of known mutations marked[7,30,40-52]. The frameshift mutations R30fsX60 and P555fsX561 are also known as E60X and V561X respectively. G792R may be associated with R396X; B: Predicted structure of TfR2 protein. YQRV, endocytosis signal; TM, transmembrane domain; RGD, RGD motif; S, predicted interchain disulphide bonds; N, potential N-linked glycosylation sites.