ISTH mutations

Advanced search

Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

Details found: 589 Page 1 of 59

Records Per Page: 10 20 30 50 100 500

Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
20	108	Type 2N	2560C>T	R854W	No	Wales		The mutation creates a restriction site for BsrI.	Bowen et al., 1998
28	10	Type 2M	4273A>T	I1425F	Yes	USA	Montgomery	VWF:RCo = 4-13, VWF:Ag = 13-36, normal collagen binding, normal multimers	Hillery et al, 1998
Deletion exons 22-43	6	Type 3	Not Determined	Null Allele	No	USA	Sadler	Deletion associated with inhibitory antibody formation to VWF.	Mancuso et al., 1994
12	10	Type 2A	1309-1326del	D437-R442del	Yes	USA	Montgomery	VWF from abnormal allele has no ristocetin and low botrocetin binding to platele More ...
31	6	Type 2M	5356C>G	H1786D	Yes	USA	Montgomery, ZPMCB-VWD	The mutation results in defective binding to both type I and type III collagen.	Flood et al., 2010
28	4	Type 2A	4735G>A	G1579R	No	USA	Robert Montgomery
28	20	Type 2M	4173-4205 del	R1392-Q1402 del	Yes	USA	Montgomery	VWF:RCo = 3-8, VWF:Ag 14-35, normal multimers, no platelet binding with ristocet More ...	Mancuso et al, 1996
52	2	Unclassified	8416T>C	C2806R	Yes	USA	Montgomery	VWF:RCo <12 U/dl, VWF:Ag 30 U/dl, 1 band on multimer gel
28	2	Type 2B	3916C>T	R1306W	No	USA	Montgomery
Deletion exons 33-38	6	Type 3	5621-269_6799-1161del	Null Allele	No	USA	Sadler	Deletion associated with inhibitory antibody formation to VWF.	Mancuso et al., 1994