Variant position: 1308 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 LSEAEFEVLKAFVVDMMERL RISQKWVRVAVVEYHDGSHAY
Mouse LSEAEFEVLKAFVVGMMERL HISQKRIRVAVVEYHDGSRAY
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.
An Arg545-->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.
Donner M.; Andersson A.-M.; Kristoffersson A.-C.; Nilsson I.M.; Dahlback B.; Holmberg L.;
Eur. J. Haematol. 47:342-345(1991)
Cited for: VARIANT VWD2 CYS-1308;
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;
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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