Variant position: 1628 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 TGNPASDEIKRLPGDIQVVP IGVGPNANVQELERIGWPNAP
Mouse TGNPASDEIKRLPGDIQVVP IGVGPHANMQELERISRPIAP
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.
Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr).
Iannuzzi M.C.; Hidaka N.; Boehnke M.; Bruck M.E.; Hanna W.T.; Collins F.S.; Ginsburg D.;
Am. J. Hum. Genet. 48:757-763(1991)
Cited for: VARIANT VWD2 THR-1628;
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;
Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.
Lyons S.E.; Cooney K.A.; Bockenstedt P.; Ginsburg D.;
Cited for: VARIANTS VWD2 PRO-1540 AND THR-1628;
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