Family tree of the patient with new DMT1 mutations, position and conservation of these and previous mutations. (A) Pedigree of the family with 2 new DMT1 mutations. The black symbols denote a mutated allele, and the white symbol a normal allele. Arrow indicates the proband. (B) Schematic representation of the DMT1 molecule and position of the amino acid changes described in the mk mice (G185R) and in human patients. delV114 and G212V are reported here. R416C is a heterozygous mutation associated with c310-3_5delCTT described by Ioalescon et al.¹⁴  E399D is a homozygous mutation described by Mims et al.¹⁰  Multiple sequence alignments of DMT1 orthologs are shown for residues forming the second predicted transmembrane domain (C) and the fifth transmembrane domain (D).