Figure 1

Schematic presentation of the CUBN/AMN genes and translation products. A: Schematic presentation of the genomic structure of the CUBN and AMN genes. The previously described and novel CUBN missense mutations are indicated by a star and an enclosed star respectively. The novel AMN mutation deletion and insertion/deletion mutations are indicated by an enclosed bar and X respectively and the previously described AMN founder mutation by an arrowhead. Exons are color-coded in grey scale to match the corresponding regions in the translated proteins for easy gene-to-function coupling. B: Domain organisation in the two translation products cubilin and amnionless. EGF and CUB domains of cubilin are shown as grey and black eclipses. Intrinsic factor-vitamin B₁₂ binding region with identified missense mutations are furthermore highlighted. Amnionless is depicted with c-terminal membrane association and extracellular cubilin interaction.