Table 1.

Summary of mutations at GATA1/exon 2 in DS TMD and AMkL patients

Patient	Sex	FAB	Gata1 exon 2 mutations		Analysis of sequence characteristics
			Mutation	Consequence of mutation	Sequence context	Notable sequence elements
1	F	TMD	114-159del46	Stop codon after Met84	ctgggcc[tga…gcc]acc	gcc direct repeat abuts CTGG
2	M	TMD	172dup166-171delG	Stop codon after Met84	–gca(g)ct–	Shares endpoint with 182Dup; direct repeat 175-179
3	M	TMD	221 G>A	Splice mutant		nonCpG
4	M	TMD	174dup159-173insGC	Stop codon after Met84	(gc)—caccgctgcagctgc–	gctgc direct repeat within duplication
5	F	TMD	192dup187-191	Stop codon after Med84	tac–tacag–	Direct repeat 205-209; endpoint disrupts TACT
6	F	M7	182dup172-181insGGG	Stop codon before Met84	ctgg–gcggcactgg–(ggg)cctact	CTGG 5′ end of duplication; shares endpoint with 172Dup; within 2bp of TACT
7	F	M7	114-159del46	Stop codon after Met84	ctgggcc[tga…gcc]acc	gcc direct repeat abuts CTGG
8	M	M7	115 G>T	Stop codon before Met84		nonCpG
9	F	M7	Indel del4-37ins134	Stop codon before Met84	atg[gag…cag]agcccct	3′ endpoint 2 bp from mononculeotide repeats; ins/del disrupts ctgggg/ccccag palindrome
10	M	M7	49 C>T	Stop codon before Met84		nonCpG; base substitution disrupts palindrome ctgggg/ccccag; disrupted base in bold
11	M	M7	161-162ins5	Stop codon before Met84	cagccac(agtgg)cgctgcagc	Direct repeat
			160A>G			G>T is a CpG site
			163G>T			Base substitutions surrounding insertion in bold
12	M	M7	149-150insG	Stop codon after Met84	gcccc(g) agcac	3′ to GC4 hotspot
13	M	M7	162delCinsTGT	Stop codon after Met84	cagccacc(tgt)(c)gctgcagc	Direct repeat
14	M	M7	99-100ins4	Stop codon before Met84	ggggttttc(nnaa)ttcccct	3′ to C4T hotspot; within polypyrimidine run; unable to unequivocally determine sequence of 2 bases within insertion
15	F	M7	106-107insT 5A>G	Stop codon before Met84	ttttcttcccct(t)ttcccctct	Within polypyrimidine run
16	F	M7	184dup84-183	Stop codon before Met84	acc—aga…gcc–tact	100-bp duplication contains CTGG and 6 mononucleotide repeats; TACT endpoint
17	M	M7	2-3insT	No translation from Met1	at(t)ggag
18	M	M7	31-32insA	Stop codon before Met84	ggggtccctgggga(a)cctc	3′ to 2 TG4 IG heavy-chain hotspots; between palindrome ctgggg/ccccag
			143-168del26		[ctgc…gca]gctgc	Direct repeat
19	M	M7	45dup41-44	Stop codon before Met84	agc–ccct–ccccc	Endpoint in mononucleotide run; duplication endpoint at palindrome ctgggg/ccccag

Mutations from patient samples were detected as described in ″Methods.″

FAB indicates French-American-British classification; M7, AMkL leukemia; and TMD, transient myeloproliferative disorder. Hyphens indicate duplicated sequence; square brackets indicate deletion endpoints; parentheses enclose inserted or deleted bases; and direct repeats are underlined.

^*Patients 1 and 7 represent the same person, first presenting with TMD and subsequently presenting with AMkL.