Variant position: 1306 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 SRLSEAEFEVLKAFVVDMME RLRISQKWVRVAVVEYHDGSH
Mouse SMLSEAEFEVLKAFVVGMME RLHISQKRIRVAVVEYHDGSR
Dog SKLSEDEFEVLKVFVVGMME HLHISQKRIRVAVVEYHDGSH
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.
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
Randi A.M.; Rabinowitz I.; Mancuso D.J.; Mannucci P.M.; Sadler J.E.;
J. Clin. Invest. 87:1220-1226(1991)
Cited for: VARIANTS VWD2 TRP-1306; CYS-1308 AND PRO-1613;
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.
Cooney K.A.; Nichols W.C.; Bruck M.E.; Bahou W.F.; Shapiro A.D.; Bowie E.J.W.; Gralnick H.R.; Ginsburg D.;
J. Clin. Invest. 87:1227-1233(1991)
Cited for: VARIANTS VWD2 TRP-1306; CYS-1308; MET-1316 AND GLN-1341; VARIANT HIS-1399;
Molecular study of von Willebrand disease: identification of potential mutations in patients with type IIA and type IIB.
Pietu G.; Ribba A.S.; de Paillette L.; Cherel G.; Lavergne J.-M.; Bahnak B.R.; Meyer D.;
Blood Coagul. Fibrinolysis 3:415-421(1992)
Cited for: VARIANTS VWD2 TRP-1306; MET-1316; THR-1628 AND SER-1648;
Type IIB von Willebrand's disease: gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.
Donner M.; Kristoffersson A.-C.; Lenk H.; Scheibel E.; Dahlback B.; Nilsson I.M.; Holmberg L.;
Br. J. Haematol. 82:58-65(1992)
Cited for: VARIANTS VWD2 TRP-1306; CYS-1308; LEU-1314 AND LEU-1318;
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