ISTH VWF Database
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VWD Classification
Exon No
Nucleotide Change
Amino Acid Substitution
Alleles
Functional Studies
Country
Laboratory
Comments
Reference
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Details found: 589
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Exon No
Alleles
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
Country
Laboratory
Comments
Ref.
Same mutation
28
Type 2A
4789C>G
R1597G
Yes
Donner et al, 1993
Same mutation
28
Type 2B
4022G>A
R1341Q
No
Sixma, Mazurier
Same mutation
28
Type 2A
4790G>A
R1597Q
No
Meyer
Same mutation
45
Type 3
7636A>T
N2546Y
No
Patients are homozygous and of consangui
More ...
Eikenboom et al, 1991; Eikenboom et al, 1992
Same mutation
28
Type 2A
4790G>A
R1597Q
No
Sixma
Same mutation
28
100
Type 2A
4789C>T
R1597W
No
Inbal et al, 1992
Same mutation
28
100
Type 2A
4789C>T
R1597W
?
Sugiura et al, 1992
Same mutation
28
Type 2A
4789C>T
R1597W
?
Sixma
Same mutation
45
Type 3
7603C>T
R2535X
No
Patients are heterozygous; all 3 alleles
More ...
Eikenboom et al, 1991; Eikenboom et al, 1992
Same mutation
18
Type 2N
2372C>T
T791M
Yes