VWF variants used in myosin-binding experiments
Variant . | Location in VWF structure . | Typical 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 |
Variant . | Location in VWF structure . | Typical 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 |