Table 4 Summary of expression data and... | American Society of Hematology

Table 4

Summary of expression data and classification

Variant	Domain	Secretion		Multimerization		Regulated storage		ADAMTS13 degradation	Classification
Variant	Domain	Homozygous	Heterozygous	Homozygous	Heterozygous	Homozygous	Heterozygous	Homozygous	Classification
M740I	D2	Y	Y	Normal	N/A	N/A	N/A	N/A	Polymorphism
C1190S	D3	Y	Y	No HMW	No HMW	+	+	N/A	Unclassified
C1099P	D3	Y	Y	No HMW	No HMW	+	+	+	Unclassified
C1272R	A1	N	Y	No HMW	N/A	N/A	N/A	N/A	Group 1
C1272S	A1	Y	Y	Smeary	Normal	−	−	±	Unclassified
C1272Y	A1	Y	Y	Smeary	Smeary	+	+	±	Unclassified
I1380V	A1	Y	Y	Normal	Normal	+	N/A	N/A	Polymorphism
L1503R	A2	N	N	No HMW	Normal	−	−	N/A	Group 1
S1506L	A2	N	N	No HMW	Normal	−	−	N/A	Group 1
I1568N	A2	Y	Y	Normal	Normal	+	+	+	Group 2
G1579R	A2	Y	N	Normal	Normal	+	+	+	Group 2
V1607D	A2	N	Y	No HMW	Normal	−	N/A	N/A	Group 1
G1631D	A2	Y	N	Normal	Normal	−	+	+	Unclassified

Variant	Domain	Secretion		Multimerization		Regulated storage		ADAMTS13 degradation	Classification
Variant	Domain	Homozygous	Heterozygous	Homozygous	Heterozygous	Homozygous	Heterozygous	Homozygous	Classification
M740I	D2	Y	Y	Normal	N/A	N/A	N/A	N/A	Polymorphism
C1190S	D3	Y	Y	No HMW	No HMW	+	+	N/A	Unclassified
C1099P	D3	Y	Y	No HMW	No HMW	+	+	+	Unclassified
C1272R	A1	N	Y	No HMW	N/A	N/A	N/A	N/A	Group 1
C1272S	A1	Y	Y	Smeary	Normal	−	−	±	Unclassified
C1272Y	A1	Y	Y	Smeary	Smeary	+	+	±	Unclassified
I1380V	A1	Y	Y	Normal	Normal	+	N/A	N/A	Polymorphism
L1503R	A2	N	N	No HMW	Normal	−	−	N/A	Group 1
S1506L	A2	N	N	No HMW	Normal	−	−	N/A	Group 1
I1568N	A2	Y	Y	Normal	Normal	+	+	+	Group 2
G1579R	A2	Y	N	Normal	Normal	+	+	+	Group 2
V1607D	A2	N	Y	No HMW	Normal	−	N/A	N/A	Group 1
G1631D	A2	Y	N	Normal	Normal	−	+	+	Unclassified

+ indicates increased; −, comparable to; ±, slightly increased compared with WT-VWF; and N/A, not applicable.