Analysis of the E399D mutation in SLC11A2

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Abstract
The human mutation reported by Mims et al has 2 molecular consequences. First, it favors the production of a splice isoform missing exon 12, which encodes the eighth predicted transmembrane segment of SLC11A2. Second, transcripts retaining exon 12 encode an E399D substitution. To attempt to understand why the phenotype resulting from the human mutation differed from that seen in mice lacking Slc11a2, we analyzed the functions of the 2 mutant gene products (Figure 1).