Schematic representation of

TFR2 structure in the 5′ region of the gene. Two transcripts, possibly resulting from the alternative splicing according to Kawabata et al,19 are shown. β-Transcript lacks exons 1 to 3 and has additional nucleotides at the 5′ end (dotted box) compared to the α-transcript. Position of the mutations is identified, and their possible effects on the proteins are shown. α^V, variant with the amino acid change M172K.