Table 2.

Characterization of ADA2 mutations

Protein	cDNA	n	Phenotype	Type	Domain	ADA2 activity (%WT)	Published phenotype [ref#]
G47W	c.139G>T	1	BMF	missense	Dimerization	0.3 ± 0.5	Vasculitis * 25
R49Afs*13	c.137dupT	4	PRCA, BMF	frameshift	Dimerization	UD	Hemolytic anemia 8
F178S	c.533T>C	2	BMF	missense	Catalytic	0.8 ± 0.6	PRCA 8
F212del	c.634_636delTTC	1	BMF	deletion	Catalytic	0.8 ± 1.2	-
G321E	c.962G>A	1	PRCA	missense	Catalytic	1.8 ± 1.0	BMF 18
G358R	c.1072G>A	4	BMF	missense	Catalytic	1.7 ± 0.6	PRCA 6
K449Nfs*2	c.1346_1347insTT	1	BMF	frameshift	Catalytic	UD	-
K466Tfs*2	c.1397_1403AGGCTGAdel	1	BMF	frameshift	Catalytic	UD	PRCA 10
V458D	c.1373T>A	1	BMF	missense	Catalytic	2.4 ± 0.4	BMF 13 Vasculitis * 26

Abbreviations: UD, undetectable.

^*This mutation was previously described in a patient with compound heterozygous mutations.