Variant position: 1336 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1427 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 SPATSNAGGCRLFINVAPHA RIAIHALATNMGAGTEGANAS
Mouse SPDGRKAGTCRVFISVAPQA RIAIRALASDMGTASEGTNAN
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
75 – 1427 A disintegrin and metalloproteinase with thrombospondin motifs 13
1299 – 1427 CUB 2
1354 – 1354 N-linked (GlcNAc...) asparagine
693 – 1427 Missing. In isoform 4.
ADAMTS13 gene defects in two brothers with constitutional thrombotic thrombocytopenic purpura and normalization of von Willebrand factor-cleaving protease activity by recombinant human ADAMTS13.
Antoine G.; Zimmermann K.; Plaimauer B.; Grillowitzer M.; Studt J.D.; Lammle B.; Scheiflinger F.;
Br. J. Haematol. 120:821-824(2003)
Cited for: VARIANT TTP TRP-1336; VARIANT VAL-732;
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation.
Plaimauer B.; Fuhrmann J.; Mohr G.; Wernhart W.; Bruno K.; Ferrari S.; Konetschny C.; Antoine G.; Rieger M.; Scheiflinger F.;
Cited for: CHARACTERIZATION OF VARIANTS TRP-7; GLU-448; ALA-618 AND VAL-732; CHARACTERIZATION OF VARIANT TTP TRP-1336; DISCUSSION OF MUTUAL MODULATORY EFFECTS OF POLYMORPHISMS;
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