Schematic of GATA1/exon 2 mutations in DS AMkL and TMD patients. Sites of GATA1/exon 2 mutations in DS AMkL and TMD patients are shown. DNA sequence for exon 2 is shown in 3 lines of nucleotide sequence, with nucleotide 1 as the first translated nucleotide of GATA1. Ins/del/dup sites are indicated below the line of the target sequence and identified by patient number. indicating sites of deletion are inserted immediately 5′ to the deleted base. above the line of sequence indicate sites of base substitution and are identified by patient number. More complete information is provided in Table 1. *Identical mutation observed in one person presenting first with TMD (#1) and subsequently with AMkL (#7).