Table 1. Summary of mutation location... | American Society of Hematology

Table 1.

Summary of mutation location for VWD patients reported on the VWF mutation database

VWD type	VWF domain	Mutation location	Inheritance pattern	Phenotype
1	All	Promoter-ex52	Majority dominant, minority >1 mutation or recessive	VWF activity/VWF:Ag >0.7
2A/IIC	D2	Ex11-16	Recessive	Mostly very discrepant VWF activity/VWF:Ag
2A/IIE	D3	Ex22 & 25-28	Dominant	Discrepant VWF activity/VWF:Ag, most <0.6
2A	A1	Ex28	Dominant	Discrepant VWF activity/VWF:Ag
2A/IIA	A2	Ex28	Dominant	Discrepant VWF activity/VWF:Ag
2A/IID	CK	Ex51-52	Dominant	Discrepant VWF activity/VWF:Ag
2B	A1	Ex28	Dominant	Wide range of VWF activity/VWF:Ag possible
2M	A1	Ex28	Dominant	Discrepant VWF activity/VWF:Ag and/or VWF:CB/VWF:Ag
2M	A3	Ex29-32	Dominant	Discrepant VWF activity/VWF:Ag and/or VWF:CB/VWF:Ag
2N	D′-D3	Ex17-20	Recessive	FVIII:C 5-40 IU/dL
2N	D′-D3	Ex24-25	Recessive	VWF:Ag normal/reduced
3	All	5′ VWF-Ex52	Recessive	VWF:Ag <5 IU/dL
3	All	5′ VWF-Ex52	Recessive	FVIII:C <10 IU/dL

VWD type	VWF domain	Mutation location	Inheritance pattern	Phenotype
1	All	Promoter-ex52	Majority dominant, minority >1 mutation or recessive	VWF activity/VWF:Ag >0.7
2A/IIC	D2	Ex11-16	Recessive	Mostly very discrepant VWF activity/VWF:Ag
2A/IIE	D3	Ex22 & 25-28	Dominant	Discrepant VWF activity/VWF:Ag, most <0.6
2A	A1	Ex28	Dominant	Discrepant VWF activity/VWF:Ag
2A/IIA	A2	Ex28	Dominant	Discrepant VWF activity/VWF:Ag
2A/IID	CK	Ex51-52	Dominant	Discrepant VWF activity/VWF:Ag
2B	A1	Ex28	Dominant	Wide range of VWF activity/VWF:Ag possible
2M	A1	Ex28	Dominant	Discrepant VWF activity/VWF:Ag and/or VWF:CB/VWF:Ag
2M	A3	Ex29-32	Dominant	Discrepant VWF activity/VWF:Ag and/or VWF:CB/VWF:Ag
2N	D′-D3	Ex17-20	Recessive	FVIII:C 5-40 IU/dL
2N	D′-D3	Ex24-25	Recessive	VWF:Ag normal/reduced
3	All	5′ VWF-Ex52	Recessive	VWF:Ag <5 IU/dL
3	All	5′ VWF-Ex52	Recessive	FVIII:C <10 IU/dL