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 preāpro-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).