Sequence information
Variant position: 1024 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:
QEACSLEPCPPRWKVMSLGP
C SASCGLGTARRSVACVQLDQ
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 QEACSLEPCPPRWKVMSLGPC SASCGLGTARRSVACVQLDQ
Mouse FEDCSPEPCPARWKVLSLGPC SASCGLGTATQMVACMQLDQ
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
1012 – 1068
TSP type-1 7
Glycosylation
1027 – 1027
O-linked (Fuc...) serine
Alternative sequence
693 – 1427
Missing. In isoform 4.
Mutagenesis
1027 – 1027
S -> A. No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1087.
Literature citations
Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
Levy G.G.; Nichols W.C.; Lian E.C.; Foroud T.; McClintick J.N.; McGee B.M.; Yang A.Y.; Siemieniak D.R.; Stark K.R.; Gruppo R.; Sarode R.; Shurin S.B.; Chandrasekaran V.; Stabler S.P.; Sabio H.; Bouhassira E.E.; Upshaw J.D. Jr.; Ginsburg D.; Tsai H.-M.;
Nature 413:488-494(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INVOLVEMENT IN THROMBOTIC THROMBOCYTOPENIC PURPURA; VARIANTS TTP ASP-96; CYS-102; ILE-196; HIS-398; GLY-528; CYS-692; GLY-951; GLY-1024 AND TYR-1213; VARIANTS TRP-7; GLU-448; ALA-618; HIS-625; VAL-732; VAL-900 AND THR-1033;
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.