Table 1 Sequence variations and plasma... | American Society of Hematology

Table 1

Sequence variations and plasma VWF laboratory parameters in type 2A VWD patients

Patient no.	Nucleotide	Amino acid	Exon	Domain	VWF:Ag, IU/dL	VWF:RCo, IU/dL	VWF:RCo/VWF:Ag	VWFpp, U/dL	VWFpp/VWF:Ag	FVIII:C, IU/dL	ABO	Multimer
1†	2220G > A	M740I*	17	D2	185	25	0.1	89	0.5	156	A	Abnormal
	3569G > C	C1190S	27	D3
2†	2220G > A	M740I*	17	D2	152	34	0.2	71	0.5	146	A	Abnormal
	3569G > C	C1190S	27	D3
	4138A > G	I1380V	28	A1
3†	4138A > G	I1380V	28	A1	144	130	0.9	N/A	N/A	226	AB	Normal
4	3295T > C	C1099P	25	D3	139	44	0.3	80	0.6	75	A	Abnormal
	3296G > C
5	3814T > C	C1272R*	28	A1	42	< 10	< 0.2	N/A	N/A	19	N/A	N/A
6	3815G > C	C1272S*	28	A1	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
7	3815G > A	C1272Y	28	A1	18	< 10	< 0.6	103	5.7	33	N/A	Abnormal
8	4508T > G	L1503R*	28	A2	22	< 10	< 0.5	52	2.4	N/A	A	Abnormal
9	4517C > T	S1506L*	28	A2	19	< 10	< 0.5	57	3.0	27	A	Abnormal
10	4703T > A	I1568N	28	A2	36	5	0.1	59	1.6	37	B	Abnormal
11	4735G > A	G1579R	28	A2	44	9	0.2	134	3.0	32	N/A	Abnormal
12	4820T > A	V1607D*	28	A2	19	6	0.3	30	1.6	54	N/A	Abnormal
13	4892G > A	G1631D*	28	A2	22	< 10	< 0.5	60	2.7	31	A	Abnormal

Patient no.	Nucleotide	Amino acid	Exon	Domain	VWF:Ag, IU/dL	VWF:RCo, IU/dL	VWF:RCo/VWF:Ag	VWFpp, U/dL	VWFpp/VWF:Ag	FVIII:C, IU/dL	ABO	Multimer
1†	2220G > A	M740I*	17	D2	185	25	0.1	89	0.5	156	A	Abnormal
	3569G > C	C1190S	27	D3
2†	2220G > A	M740I*	17	D2	152	34	0.2	71	0.5	146	A	Abnormal
	3569G > C	C1190S	27	D3
	4138A > G	I1380V	28	A1
3†	4138A > G	I1380V	28	A1	144	130	0.9	N/A	N/A	226	AB	Normal
4	3295T > C	C1099P	25	D3	139	44	0.3	80	0.6	75	A	Abnormal
	3296G > C
5	3814T > C	C1272R*	28	A1	42	< 10	< 0.2	N/A	N/A	19	N/A	N/A
6	3815G > C	C1272S*	28	A1	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A
7	3815G > A	C1272Y	28	A1	18	< 10	< 0.6	103	5.7	33	N/A	Abnormal
8	4508T > G	L1503R*	28	A2	22	< 10	< 0.5	52	2.4	N/A	A	Abnormal
9	4517C > T	S1506L*	28	A2	19	< 10	< 0.5	57	3.0	27	A	Abnormal
10	4703T > A	I1568N	28	A2	36	5	0.1	59	1.6	37	B	Abnormal
11	4735G > A	G1579R	28	A2	44	9	0.2	134	3.0	32	N/A	Abnormal
12	4820T > A	V1607D*	28	A2	19	6	0.3	30	1.6	54	N/A	Abnormal
13	4892G > A	G1631D*	28	A2	22	< 10	< 0.5	60	2.7	31	A	Abnormal

Reference ranges are: VWF:Ag, 50-240 IU/dL; VWF:RCo, 54-279 IU/dL; VWFpp, 55-141 U/dL; and FVIII:C, 60-195 IU/dL.

N/A indicates not applicable.

Family members. Patients 1 and 2 are affected; patient 3 is unaffected.