Non-HFE haemochromatosis

Figure 1 Structure of human hemojuvelin and positions of mutations. A: The exon structure of human hemojuvelin is shown with positions of known mutations marked[6,13-24,30,39]. *Q6H was found associated with C321X; B: Predicted structure of the full length HJV protein, showing the positions of structural domains and motifs. SP, signal peptide; PG, poly-glycine sequence; RGD, RGD motif; PP, poly-proline sequence; vWF, partial von Willebrand factor type D domain; N, potential N-linked glycosylation sites; GPI, GPI-attachment site; TM, transmembrane domain, cleaved after GPI attachment.