Table 5 VWF mutations and phenotype in... | American Society of Hematology

Table 5

VWF mutations and phenotype in 44 group 2 index cases with normal multimers and a single mutation

IC*	Type of mutation	Exon/intron	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)
Range	Promoter	Promoter	−2520C>T†	—	4	74	57	65	61	0.88	1 (1), 2 (1), 3 (2)
P12F2II1	Promoter	Promoter	−1896C>T†‖	—	1	75	48	43	69	1.12	3
P6F7II3	Missense	2	55G>A†	G19R	1	80	20	30	20	0.67	2
P9F17II2	Missense	5	478G>T†	G160W	1	50	52	53	38	0.98	2
P9F12II2	Missense	5	497A>T†	N166I	1	55	29	38	22	0.76	1
P2F15II1	Splice	Int13	1534-3C>A‖⁸	—	1	132	53	55	62	0.96	3
P7F20II1	Missense	15	1922C>T†	A641V	1	56	60	97	77	0.62	2
P9F16IV3	Missense	18	2313G>T†	M771I	1	20	59	38	49	1.55	2
P7F2II1	Deletion	18	2435delC⁴⁵	P812fs	1	56	29	28	31	1.04	3
P10F8II1¶	Missense	19	2446C>T⁴⁰	R816W	1	14	52	49	57	1.06	3
P12F6II2	Splice	Int20	2686-1G>C†	Exon 21 skip	1	159	42	51	60	0.82	1
P5F1II3§	Missense	20	2561G>A⁴⁰	R854Q	1	28	32	37	43	0.86	1
P6F11II1	Missense	21	2771G>A⁴⁴	R924Q	1	52	34	40	49	0.85	3
P3F10II1	Deletion	23	3072delC†	S1024fs	1	76	38	31	35	1.23	1
P7F1I2	Missense	25	3281T>C†	I1094T	1	148	74	71	76	1.04	3
P2F4I2	Missense	27	3614G>A²⁶	R1205H	1	11	3	3	4	1.00	1
P12F4II12	Insertion	28	3839-3845ins7†	F1280fs	1	66	35	29	59	1.21	1
P12F7II2	Missense	28	4082T>C†‖	L1361S	1	86	14	90	35	0.16	1
P10F3II1	Missense	28	4135C>T⁴⁶	R1379C	1	107	60	59	62	1.02	3
P10F1II2	Missense	28	4238C>T†	P1413L	1	58	39	44	37	0.89	1
P2F12II1	Nonsense	28	4423C>T†	Q1475X	1	36	38	27	48	1.41	1
P7F4II1	Missense	28	4747C>T⁸	R1583W	1	56	54	52	57	1.04	3
Range	Missense	28	4751A>G²¹	Y1584C	10	21-182	36-93	21-80	20-115	0.75-1.24	1 (5), 2 (2), 3 (3)
P7F11II1	Splice	Int29	5170+10C>T†	—	1	67	45	39	44	1.15	2
P12F13II1	Missense	31	5321T>C†‖	L1774S	1	107	97	64	45	1.52	2
P9F10II1	Missense	31	5380A>G†	K1794E	1	70	26	34	30	0.76	1
P10F6II1	Missense	40	6911G>A†	C2304Y	1	150	61	68	71	0.90	1
P3F91II1	Missense	40	6938G>A†‖	R2313H	1	70	52	61	60	0.85	2
P5F6II3	Missense	45	7551G>A†	G2518S	1	114	54	55	65	0.98	1
P8F2II2	Nonsense	45	7630C>T⁴⁷	Q2544X	1	75	40	26	43	1.54	3
P6F16II1	Missense	49	8078G>A†	C2693Y	1	69	64	46	42	1.39	1
P9F11II1	Missense	51	8164C>G†	P2722A	1	5	20	31	31	0.65	1

IC*	Type of mutation	Exon/intron	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)
Range	Promoter	Promoter	−2520C>T†	—	4	74	57	65	61	0.88	1 (1), 2 (1), 3 (2)
P12F2II1	Promoter	Promoter	−1896C>T†‖	—	1	75	48	43	69	1.12	3
P6F7II3	Missense	2	55G>A†	G19R	1	80	20	30	20	0.67	2
P9F17II2	Missense	5	478G>T†	G160W	1	50	52	53	38	0.98	2
P9F12II2	Missense	5	497A>T†	N166I	1	55	29	38	22	0.76	1
P2F15II1	Splice	Int13	1534-3C>A‖⁸	—	1	132	53	55	62	0.96	3
P7F20II1	Missense	15	1922C>T†	A641V	1	56	60	97	77	0.62	2
P9F16IV3	Missense	18	2313G>T†	M771I	1	20	59	38	49	1.55	2
P7F2II1	Deletion	18	2435delC⁴⁵	P812fs	1	56	29	28	31	1.04	3
P10F8II1¶	Missense	19	2446C>T⁴⁰	R816W	1	14	52	49	57	1.06	3
P12F6II2	Splice	Int20	2686-1G>C†	Exon 21 skip	1	159	42	51	60	0.82	1
P5F1II3§	Missense	20	2561G>A⁴⁰	R854Q	1	28	32	37	43	0.86	1
P6F11II1	Missense	21	2771G>A⁴⁴	R924Q	1	52	34	40	49	0.85	3
P3F10II1	Deletion	23	3072delC†	S1024fs	1	76	38	31	35	1.23	1
P7F1I2	Missense	25	3281T>C†	I1094T	1	148	74	71	76	1.04	3
P2F4I2	Missense	27	3614G>A²⁶	R1205H	1	11	3	3	4	1.00	1
P12F4II12	Insertion	28	3839-3845ins7†	F1280fs	1	66	35	29	59	1.21	1
P12F7II2	Missense	28	4082T>C†‖	L1361S	1	86	14	90	35	0.16	1
P10F3II1	Missense	28	4135C>T⁴⁶	R1379C	1	107	60	59	62	1.02	3
P10F1II2	Missense	28	4238C>T†	P1413L	1	58	39	44	37	0.89	1
P2F12II1	Nonsense	28	4423C>T†	Q1475X	1	36	38	27	48	1.41	1
P7F4II1	Missense	28	4747C>T⁸	R1583W	1	56	54	52	57	1.04	3
Range	Missense	28	4751A>G²¹	Y1584C	10	21-182	36-93	21-80	20-115	0.75-1.24	1 (5), 2 (2), 3 (3)
P7F11II1	Splice	Int29	5170+10C>T†	—	1	67	45	39	44	1.15	2
P12F13II1	Missense	31	5321T>C†‖	L1774S	1	107	97	64	45	1.52	2
P9F10II1	Missense	31	5380A>G†	K1794E	1	70	26	34	30	0.76	1
P10F6II1	Missense	40	6911G>A†	C2304Y	1	150	61	68	71	0.90	1
P3F91II1	Missense	40	6938G>A†‖	R2313H	1	70	52	61	60	0.85	2
P5F6II3	Missense	45	7551G>A†	G2518S	1	114	54	55	65	0.98	1
P8F2II2	Nonsense	45	7630C>T⁴⁷	Q2544X	1	75	40	26	43	1.54	3
P6F16II1	Missense	49	8078G>A†	C2693Y	1	69	64	46	42	1.39	1
P9F11II1	Missense	51	8164C>G†	P2722A	1	5	20	31	31	0.65	1

— indicates not applicable.

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.

Reduced VWF:FVIIIB.

‖

Excluded as an SNP by absence from 100 healthy controls.

Absent VWF:FVIIIB.

View Large

This Feature Is Available To Subscribers Only