Table 5.

Single nucleotide substitutions at GATA1/exon 2 in DS AMkL and TMD patients: Characterization of single-nucleotide substitutions

Nucleotide change	Amino acid change	Type	Potential source
			Oxidative stress	Uracil
5 A>G	glu2gly	ms		Yes
49 C>T	gln17ter	ns		Yes
115 G>T	glu39ter	ns	Yes
160 A>G	thr54ala	ms		Yes
163 G>T	ala55ser	ms	Yes
221 G>A	gly74asp	spl		Yes

ms indicates missense mutation; ns, nonsense mutation; and spl, splice variant.