Variant position: 900 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 APSPWGSIRTGAQAAHVWTP AAGSCSVSCGRGLMELRFLCM
Mouse APSPVGSDKPGAQAEHVWTP LVGLCSISCGRGLKELYFLCM
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.
Structure of von Willebrand factor-cleaving protease (ADAMTS13), a metalloprotease involved in thrombotic thrombocytopenic purpura.
Zheng X.; Chung D.; Takayama T.K.; Majerus E.M.; Sadler J.E.; Fujikawa K.;
J. Biol. Chem. 276:41059-41063(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); GLYCOSYLATION; VARIANT VAL-900;
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;
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS TRP-7; GLU-448; HIS-456; LEU-457; ALA-618; HIS-625; LYS-740; VAL-900; ARG-982; THR-1033 AND ILE-1226;
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.