Sequence information
Variant position: 263 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:
GPSGHVMASDGAAPRAGLAW
S PCSRRQLLSLLSAGRARCVW
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 GPSGHVMASDGAAPRAG-LAWS PCSRRQLLSLLSAGRARCVW
Mouse KASGHVMAADGATPTGGTLEWS ACSQRQLQHLLSTGQMHCF
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
Chain
75 – 1427
A disintegrin and metalloproteinase with thrombospondin motifs 13
Domain
80 – 286
Peptidase M12B
Metal binding
281 – 281
Calcium
Disulfide bond
202 – 281
Disulfide bond
242 – 265
Alternative sequence
2 – 329
Missing. In isoform 4.
Literature citations
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP.
Schneppenheim R.; Budde U.; Oyen F.; Angerhaus D.; Aumann V.; Drewke E.; Hassenpflug W.; Haberle J.; Kentouche K.; Kohne E.; Kurnik K.; Mueller-Wiefel D.; Obser T.; Santer R.; Sykora K.W.;
Blood 101:1845-1850(2003)
Cited for: VARIANTS TTP GLN-232; CYS-263 AND LEU-353;
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;
Disclaimer:
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.