Table 2.

ADAMTS13 mutations in two TTP families

Exon	Family	Nucleotide	Amino acid	Frequency	Heterozygosity
5	A	420 T>C*	Silent	ND	–
6	A	546 C>T	Silent	ND	–
7	A	803 G>C	R268P	GG:364, CG:0, CC:0	<0.3%
12	A	1342 C>G*	Q448E	CC:321, CG:125, GG:8	31.2%
12	B	1345 C>T	Q449stop	CC:364, CT:0, TT:0	<0.3%
12	A	1423 C>T	P475S	CC:328, CT:35, TT:1	9.6%
13	A	1523 G>A	C508Y	GG:364, AG:0, AA:0	<0.3%
15	A	1716 G>A*	Silent	ND	–
19	A	2280 C>T*	Silent	ND	–
29	A, B	4221 C>A*	Silent	ND	–

ND, not determined. 

^*Reported by Levy et al. (22).