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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04275: Variant p.Arg1597Trp

von Willebrand factor
Gene: VWF
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Variant information Variant position: help 1597
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 1597 (R1597W, p.Arg1597Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In VWD2.
Other resources: help


Sequence information Variant position: help 1597
Protein sequence length: help 2813
Location on the sequence: help NTGLALRYLSDHSFLVSQGD R EQAPNLVYMVTGNPASDEIK
Residue conservation: help
Human                         NTGLALRYLSDHSFLVSQGDREQAPNLVYMVTGNPASDEIK

                              NTGLALQYLSEHSFSVSQGDREQVPNLVYMVTGNPASDEIK

Mouse                         NTGQALQYLSEHSFSPSQGDRVEAPNLVYMVTGNPASDEIK

Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 764 – 2813 von Willebrand factor
Domain 1498 – 1665 VWFA 2
Alternative sequence 315 – 2813 Missing. In isoform 2.
Helix 1595 – 1599



Literature citations
Molecular basis of human von Willebrand disease: analysis of platelet von Willebrand factor mRNA.
Ginsburg D.; Konkle B.A.; Gill J.C.; Montgomery R.R.; Bockenstedt P.L.; Johnson T.A.; Yang A.Y.;
Proc. Natl. Acad. Sci. U.S.A. 86:3723-3727(1989)
Cited for: VARIANTS VWD2 TRP-1597 AND ASP-1607;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.