Variant position: 398 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 TPIAAVHGRWSSWGPRSPCS RSCGGGVVTRRRQCNNPRPAF
Mouse APVAAVHGHWSSWGPHSPCS RSCGGGVITRRRWCNNPRPAF
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
384 – 439 TSP type-1 1
387 – 387 C-linked (Man) tryptophan
399 – 399 O-linked (Fuc...) serine
396 – 433
399 – 399 S -> A. No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes secretion of ADAMTS13; when associated with A-698.
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.;
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;
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