Table 2.

Polymorphisms within exon 28 of the VWF gene


Polymorphism


Nucleotide
Position
Amino acid
Position
A/G   24/223   Asn/Ser   1231 (468)  
G/T   24/295   Leu/Leu   1287 (524)  
G/A   24/542   Pro/Pro   1337 (574)  
C/T   24/661   Ala/Val   1377 (614)  
A/G   24/669   Ile/Val   1380 (617)  
G/A   24/672   Ala/Thr   1381 (618)  
G/A   24/727   Arg/His   1399 (638)  
A/G   24/835   Asn/Ser   1435 (672)  
G/C   24/945   Asp/His   1472 (709)  
C/T   24/1048   Ser/Leu   1506 (743)  
A/C   24/1196   Ala/Ala   1555 (792)  
G/T   24/1224   Val/Leu   1565 (802)  
A/G   24/1282   Tyr/Cys   1584 (821)  
C/A   24/1332   Pro/Thr   1601 (838)  
T/A   24/1577   Pro/Pro   1682 (919)  
C/T
 
24/1171
 
Thr/Thr
 
1547 (784)
 

Polymorphism


Nucleotide
Position
Amino acid
Position
A/G   24/223   Asn/Ser   1231 (468)  
G/T   24/295   Leu/Leu   1287 (524)  
G/A   24/542   Pro/Pro   1337 (574)  
C/T   24/661   Ala/Val   1377 (614)  
A/G   24/669   Ile/Val   1380 (617)  
G/A   24/672   Ala/Thr   1381 (618)  
G/A   24/727   Arg/His   1399 (638)  
A/G   24/835   Asn/Ser   1435 (672)  
G/C   24/945   Asp/His   1472 (709)  
C/T   24/1048   Ser/Leu   1506 (743)  
A/C   24/1196   Ala/Ala   1555 (792)  
G/T   24/1224   Val/Leu   1565 (802)  
A/G   24/1282   Tyr/Cys   1584 (821)  
C/A   24/1332   Pro/Thr   1601 (838)  
T/A   24/1577   Pro/Pro   1682 (919)  
C/T
 
24/1171
 
Thr/Thr
 
1547 (784)
 

Nucleotide numbering according to Mancuso et al.20  Amino acid positions that are not in parentheses are from the start methionine of pre—pro-VWF; amino acid positions in parentheses are from residue 1 of the mature VWF subunit. The numbering schemes can be respectively interconverted by the subtraction or addition of 763. With the exception of the silent C/T 24/1171 SNP revealed in the present study, all other polymorphisms are reported in the international VWF database (http://www.shef.ac.uk/vwf/polymorphisms/ex28.html).

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