Variant position: 1060 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 VQLDQGQDVEVDEAACAALV RPEASVPCLIADCTYRWHVGT
Mouse MQLDQGHDNEVNETFCKALV RPQASVPCLIADCAFRWHISA
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
1012 – 1068 TSP type-1 7
693 – 1427 Missing. In isoform 4.
Novel ADAMTS-13 mutations in an adult with delayed onset thrombotic thrombocytopenic purpura.
Tao Z.; Anthony K.; Peng Y.; Choi H.; Nolasco L.; Rice L.; Moake J.L.; Dong J.F.;
J. Thromb. Haemost. 4:1931-1935(2006)
Cited for: VARIANT TTP TRP-1060; CHARACTERIZATION OF VARIANTS TTP TRP-1060;
A common origin of the 4143insA ADAMTS13 mutation.
Schneppenheim R.; Kremer Hovinga J.A.; Becker T.; Budde U.; Karpman D.; Brockhaus W.; Hrachovinova I.; Korczowski B.; Oyen F.; Rittich S.; von Rosen J.; Tjonnfjord G.E.; Pimanda J.E.; Wienker T.F.; Lammle B.;
Thromb. Haemost. 96:3-6(2006)
Cited for: VARIANTS TTP ILE-196; CYS-263; SER-347; LEU-353; GLN-507; LEU-671 AND TRP-1060;
In-vitro and in-vivo consequences of mutations in the von Willebrand factor cleaving protease ADAMTS13 in thrombotic thrombocytopenic purpura.
Donadelli R.; Banterla F.; Galbusera M.; Capoferri C.; Bucchioni S.; Gastoldi S.; Nosari S.; Monteferrante G.; Ruggeri Z.M.; Bresin E.; Scheiflinger F.; Rossi E.; Martinez C.; Coppo R.; Remuzzi G.; Noris M.;
Thromb. Haemost. 96:454-464(2006)
Cited for: VARIANTS TTP TRP-1060; CYS-1123 AND TRP-1219; CHARACTERIZATION OF VARIANTS TTP TRP-1060; CYS-1123 AND TRP-1219; VARIANT GLU-448;
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