Table 1 Type 2N missense mutations in... | American Society of Hematology

Table 1

Type 2N missense mutations in domains TIL′ and E′ of VWF

Domain	Mutation	Δ Volume (Å³)*	Position	Predicted effect
TIL′	R782W	+41.1	β1-β2 loop	Loss +ve, polar-to-hydrophobic, structural perturbation
	G785E	+88.1	β1-β2 loop	Introduce −ve charge, ↑volume
	E787K	+8.9	β1-β2 loop	Introduce +ve in region of −ve charge, highly deleterious
	C788R	+94.7	β1-β2 loop	Introduction of -SH, introduce +ve, ↑volume
	C788Y	+108.4	β1-β2 loop	Introduction of -SH, ↑volume
	T789P	−3.6	β1-β2 loop	Perturbation of putative a3 binding region
	T791M	+40.9	β1-β2 loop	Perturbation of putative a3 binding region
	Y795C	−96.4	β1-β2 loop	Exposed -SH
	M800V	−28.5	β1-β2 loop	Border of putative a3 binding region
	C804F	+85.4	β1-β2 loop	Introduction of -SH
	P812L	+41.0	β2-β3 loop	Perturbation of putative a3 binding region
	R816W	+42.1	β3	Loss of conserved +ve in putative a3 binding region
	R816Q	−40.7	β3	Loss of conserved +ve in putative a3 binding region
	H817Q	−7.8	β3	Loss of conserved +ve in putative a3 binding region
E′	R854W	+42.1	β4-β5 loop	Loss +ve, polar-to-hydrophobic
	R854Q	−40.7	β4-β5 loop	Loss +ve
	C858F	+97.4	β5	Introduction of -SH
	C858S	−0.4	β5	Introduction of -SH

Domain	Mutation	Δ Volume (Å³)*	Position	Predicted effect
TIL′	R782W	+41.1	β1-β2 loop	Loss +ve, polar-to-hydrophobic, structural perturbation
	G785E	+88.1	β1-β2 loop	Introduce −ve charge, ↑volume
	E787K	+8.9	β1-β2 loop	Introduce +ve in region of −ve charge, highly deleterious
	C788R	+94.7	β1-β2 loop	Introduction of -SH, introduce +ve, ↑volume
	C788Y	+108.4	β1-β2 loop	Introduction of -SH, ↑volume
	T789P	−3.6	β1-β2 loop	Perturbation of putative a3 binding region
	T791M	+40.9	β1-β2 loop	Perturbation of putative a3 binding region
	Y795C	−96.4	β1-β2 loop	Exposed -SH
	M800V	−28.5	β1-β2 loop	Border of putative a3 binding region
	C804F	+85.4	β1-β2 loop	Introduction of -SH
	P812L	+41.0	β2-β3 loop	Perturbation of putative a3 binding region
	R816W	+42.1	β3	Loss of conserved +ve in putative a3 binding region
	R816Q	−40.7	β3	Loss of conserved +ve in putative a3 binding region
	H817Q	−7.8	β3	Loss of conserved +ve in putative a3 binding region
E′	R854W	+42.1	β4-β5 loop	Loss +ve, polar-to-hydrophobic
	R854Q	−40.7	β4-β5 loop	Loss +ve
	C858F	+97.4	β5	Introduction of -SH
	C858S	−0.4	β5	Introduction of -SH

Changes in residue volumes are based on Pontius et al.⁴⁷