Variant position: 903 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 PWGSIRTGAQAAHVWTPAAG SCSVSCGRGLMELRFLCMDSA
Mouse PVGSDKPGAQAEHVWTPLVG LCSISCGRGLKELYFLCMDSV
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.
Identification of two novel mutations in ADAMTS13 gene in a patient with hereditary thrombotic thrombocytopenic purpura.
Liu F.; Jin J.; Dong N.Z.; Wang Y.G.; Ruan C.G.;
Zhonghua Xue Ye Xue Za Zhi 26:521-524(2005)
Cited for: VARIANTS LEU-903 AND TRP-1095;
Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure.
Shibagaki Y.; Matsumoto M.; Kokame K.; Ohba S.; Miyata T.; Fujimura Y.; Fujita T.;
Nephrol. Dial. Transplant. 21:1289-1292(2006)
Cited for: VARIANT TTP GLN-234; VARIANT LEU-903;
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