Table 1.

VWF variants used in myosin-binding experiments

VariantLocation in VWF structureTypical effect on VWF function
p.Y87S D1 domain Impairs N-terminal multimerization 
p.T791M D′ domain Removes ability of VWF to bind FVIII 
p.V1316M A1 domain Type 2B variant, increases VWF binding to platelet GPIb 
p.F1369I A1 domain Type 2M variant, decreases VWF binding to platelet GPIb 
p.R1392A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1395A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1399A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1399H A1 domain Removes ability of VWF to bind type IV collagen 
p.R1402A A1 domain Removes ability of VWF to bind type IV collagen 
p.H1786D A3 domain Removes ability of VWF to bind type III collagen 
p.D2509E C domain (C4) Alters RGD site, removes binding to platelet αIIbβ3 
p.C2773R C domain Impairs C-terminal dimerization 
VariantLocation in VWF structureTypical effect on VWF function
p.Y87S D1 domain Impairs N-terminal multimerization 
p.T791M D′ domain Removes ability of VWF to bind FVIII 
p.V1316M A1 domain Type 2B variant, increases VWF binding to platelet GPIb 
p.F1369I A1 domain Type 2M variant, decreases VWF binding to platelet GPIb 
p.R1392A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1395A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1399A A1 domain Removes ability of VWF to bind type IV collagen 
p.R1399H A1 domain Removes ability of VWF to bind type IV collagen 
p.R1402A A1 domain Removes ability of VWF to bind type IV collagen 
p.H1786D A3 domain Removes ability of VWF to bind type III collagen 
p.D2509E C domain (C4) Alters RGD site, removes binding to platelet αIIbβ3 
p.C2773R C domain Impairs C-terminal dimerization 
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