Variant position: 908 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 RTGAQAAHVWTPAAGSCSVS CGRGLMELRFLCMDSALRVPV
Mouse KPGAQAEHVWTPLVGLCSIS CGRGLKELYFLCMDSVLKMPV
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
896 – 950 TSP type-1 5
907 – 907 O-linked (Fuc...) serine
693 – 1427 Missing. In isoform 4.
907 – 907 S -> A. No effect on cleavage of VWF and greatly reduced secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-965.
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.