Variant position: 508 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 RAIGESFIMKRGDSFLDGTR CMPSGPREDGTLSLCVSGSCR
Mouse WAVGESFIVSRGDRFLDGTR CVPSGPQDDGTLSLCLLGSCR
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
440 – 556 Cysteine-rich
483 – 522
508 – 527
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;
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.