Identification of the DMT1 mutations in the proband. (A) Partial sequence of intron 4-exon 5 junction of the proband and wild-type (WT) DNA identifying the c.310-3_5del CTT mutation (underlined). The abnormality in the consensus sequence of the acceptor splice site is shown on the right. The dinucleotide acceptor site is in bold. (B) Sequence analysis of the DNA region encompassing exon 13 showing the heterozygous C>T transition at position 1246, causing a p. R416C mutation. (C) ClustalW alignment of the amino acid sequences of NRAMP2 (DMT1) and NRAMP1 orthologs from different species, showing complete conservativeness of the R416 residue (boxed).