Variant position: 203 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 LELPDGNRQVRGVTQLGGAC SPTWSCLITEDTGFDLGVTIA
Mouse LELPDGNQQVRGVTQLGGAC SLSWSCLITEDTGFDLGVTIA
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
184 – 184 Calcium; high affinity
187 – 187 Calcium; high affinity
212 – 212 Calcium; high affinity
155 – 208
202 – 281
2 – 329 Missing. In isoform 4.
184 – 184 E -> A. Dramatically reduced affinity for calcium.
187 – 187 D -> A. Dramatically reduced affinity for calcium.
212 – 212 E -> A. Dramatically reduced affinity for calcium.
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;
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