Variant position: 1374 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2813 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human VASTSEVLKYTLFQIFSKID RPEASRITLLLMASQEPQRMS
Mouse VASTSEVLKYTLFQIFGKID RPEASHITLLLTASQEPPRMA
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
764 – 2813 von Willebrand factor
1277 – 1453 VWFA 1; binding site for platelet glycoprotein Ib
1272 – 1458
315 – 2813 Missing. In isoform 2.
Identification of two mutations (Arg611Cys and Arg611His) in the A1 loop of von Willebrand factor (vWF) responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.
Hilbert L.; Gaucher C.; Mazurier C.;
Cited for: VARIANTS VWD2 CYS-1374 AND HIS-1374;
A novel candidate mutation (Arg611-->His) in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.
Castaman G.; Eikenboom C.J.C.; Rodeghiero F.; Briet K.; Reitsma P.H.;
Br. J. Haematol. 89:656-658(1995)
Cited for: VARIANT VWD2 HIS-1374;
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