Variant position: 268 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 VMASDGAAPRAG-LAWSPCSR RQLLSLLSAGRARCVWDPPRP
Mouse VMAADGATPTGGTLEWSACSQ RQLQHLLSTGQMHCFQDPPG
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
80 – 286 Peptidase M12B
281 – 281 Calcium
284 – 284 Calcium
202 – 281
2 – 329 Missing. In isoform 4.
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.
Kokame K.; Matsumoto M.; Soejima K.; Yagi H.; Ishizashi H.; Funato M.; Tamai H.; Konno M.; Kamide K.; Kawano Y.; Miyata T.; Fujimura Y.;
Proc. Natl. Acad. Sci. U.S.A. 99:11902-11907(2002)
Cited for: VARIANTS TTP PRO-268 AND TYR-508; VARIANTS GLU-448 AND SER-475; CHARACTERIZATION OF VARIANTS TTP PRO-268 AND TYR-508; CHARACTERIZATION OF VARIANTS GLU-448 AND SER-475;
Ten candidate ADAMTS13 mutations in six French families with congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome).
Veyradier A.; Lavergne J.M.; Ribba A.S.; Obert B.; Loirat C.; Meyer D.; Girma J.P.;
J. Thromb. Haemost. 2:424-429(2004)
Cited for: VARIANTS TTP MET-79; PRO-203; PRO-268; GLN-507; VAL-596; ARG-758 AND SER-908;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.