Table 4 VWF mutations and phenotype in... | American Society of Hematology

Table 4

VWF mutations and phenotype in 11 group 1 index cases with abnormal multimers and 2 mutations

Type of mutation by IC*	Exon	Nucleotide change†	Amino acid change	No. of ICs with this mutation	FVIII:C, IU/dL	VWF:RCo, IU/dL	VWF:Ag, IU/dL	VWF:CB, IU/dL	VWF:RCo/VWF:Ag	Cosegregation‡ (no. of families)
P1F4II1§				1	34	25	19	15	1.32	1
Missense	28	4751A>G²¹	Y1584C
Missense	43	7390C>T†	R2464C
P2F1II1§				1	7	3	9	17	0.33	3
Deletion	28	4449delG†	L1481fs
Missense	28	4751A>G²¹	Y1584C
Range‖				3	3-14	3-6	6-14	5-18	0.43-0.75	1 (2), 3 (1)
Missense	17	2220G>A⁴³	M740I
Missense	27	3614G>A⁴³	R1205H
P2F6II1§¶				1	55	11	13	ND	0.85	1
Missense	26	3389G>T³⁰	C1130F
Missense	49	7988G>C†	R2663P
P3F7II1§				1	12	3	3	6	1.00	2
Nonsense	31	5335C>T†	R1779X
Missense	43	7405T>C†	S2469P
P3F13I1‖				1	78	13	42	24	0.31	1
Missense	21	2771G>A⁴⁴	R924Q
Missense	28	3944G>T†	R1315L
P4F4I1§				1	34	3	10	14	0.30	1
Missense	28	4120C>T²⁰	R1374C
Missense	37	6433C>T†	P2145S
P5F3II2‖#				1	65	11	27	42	0.41	1
Missense	28	3797C>T²²	P1266L
Missense	28	3944G>A†	R1315H
P10F10II1‖				1	25	13	14	7	0.93	3
Missense	26	3437A>G†	Y1146C
Missense	28	4133C>T†	S1378F

Type of mutation by IC*	Exon	Nucleotide change†	Amino acid change	No. of ICs with this mutation	FVIII:C, IU/dL	VWF:RCo, IU/dL	VWF:Ag, IU/dL	VWF:CB, IU/dL	VWF:RCo/VWF:Ag	Cosegregation‡ (no. of families)
P1F4II1§				1	34	25	19	15	1.32	1
Missense	28	4751A>G²¹	Y1584C
Missense	43	7390C>T†	R2464C
P2F1II1§				1	7	3	9	17	0.33	3
Deletion	28	4449delG†	L1481fs
Missense	28	4751A>G²¹	Y1584C
Range‖				3	3-14	3-6	6-14	5-18	0.43-0.75	1 (2), 3 (1)
Missense	17	2220G>A⁴³	M740I
Missense	27	3614G>A⁴³	R1205H
P2F6II1§¶				1	55	11	13	ND	0.85	1
Missense	26	3389G>T³⁰	C1130F
Missense	49	7988G>C†	R2663P
P3F7II1§				1	12	3	3	6	1.00	2
Nonsense	31	5335C>T†	R1779X
Missense	43	7405T>C†	S2469P
P3F13I1‖				1	78	13	42	24	0.31	1
Missense	21	2771G>A⁴⁴	R924Q
Missense	28	3944G>T†	R1315L
P4F4I1§				1	34	3	10	14	0.30	1
Missense	28	4120C>T²⁰	R1374C
Missense	37	6433C>T†	P2145S
P5F3II2‖#				1	65	11	27	42	0.41	1
Missense	28	3797C>T²²	P1266L
Missense	28	3944G>A†	R1315H
P10F10II1‖				1	25	13	14	7	0.93	3
Missense	26	3437A>G†	Y1146C
Missense	28	4133C>T†	S1378F

ND indicates not done.

ICs are indicated by their study ID; when a mutation is present in more than 1 IC, the phenotypic data are indicated as “range.”

Novel mutations.

Cosegregation of VWD with the VWF gene¹²; 1 indicates complete cosegregation; 2, incomplete cosegregation; 3, not informative.

Compound heterozygous inheritance of the 2 mutations.

Allelic inheritance of the 2 mutations.

Reduced VWF:FVIIIB.

P1266L is the result of gene conversion with the VWF pseudogene VWFP. The IC also has 3789G>A; S1269.