Variant position: 1316 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 LKAFVVDMMERLRISQKWVR VAVVEYHDGSHAYIGLKDRKR
Mouse LKAFVVGMMERLHISQKRIR VAVVEYHDGSRAYLELKARKR
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.
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;
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.
Murray E.W.; Giles A.R.; Lillicrap D.;
Am. J. Hum. Genet. 50:199-207(1992)
Cited for: VARIANT VWD2 MET-1316;
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;
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