Table 2.
VWF Normal Allelic Variants
| DNA Nucleotide Change | Protein Amino Acid Change | VWF Exon/Intron | rs# a | Restriction Site/Type of Polymorphism | Reference Sequence |
|---|---|---|---|---|---|
| c.1451A>G b | p.His484Arg | Exon 13 | rs1800378 | Rsa I |
NM_000552.3 NP_000543.2 |
| c.1946- 19_1946- 17dupCTTb | none | Intron 15 | rs10622288 | 3 bp insertion/deletion | |
| c.2365A>G b | p.Thr789Ala | Exon 18 | rs1063856 | Rsa I | |
| c.2555A>G | p.Gln852Arg | Exon 20 | rs216321 | Nla IV | |
| c.4141A>G b | p.Thr1381Ala | Exon 28 | rs216311 | Hph I | |
| c.4414G>C | p.Asp1472His | Exon 28 | rs1800383 | RleA I | |
| c.4641C>T b | p.Thr1547Thr | Exon 28 | rs216310 | BstE II | |
| c.6187C>T | p.Pro2063Ser | Exon 36 | NA | ||
| c.6977- 542_6977- 541ins24 | none | Intron 40 | rs36115023 | deletion/insertion polymorphism | |
| c.6977- 715_6977- 714ins16 | none | Intron 40 | rs41402545 | deletion/insertion polymorphism | |
| c.8113G>A | p.Gly2705Arg | Exon 49 | rs7962217 |
Only a small proportion of common non-synonymous variants are listed.
a
rs#, reference SNP number.
b
Normal variants particularly useful for linkage analysis because they are common in several ethnic groups and/or affect the cleavage site of a well-behaved restriction enzyme.