Variant position: 457 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 ACEKTQLEFMSQQCARTDGQ PLRSSPGGASFYHWGAAVPHS
Mouse ACEKTQLEFMSEQCAQTDRQ PLQLSQGTASFYHWDAAVQYS
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
440 – 556 Cysteine-rich
450 – 487
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;
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency.
Assink K.; Schiphorst R.; Allford S.; Karpman D.; Etzioni A.; Brichard B.; van de Kar N.; Monnens L.; van den Heuvel L.;
Kidney Int. 63:1995-1999(2003)
Cited for: VARIANTS TTP HIS-235; TYR-311 AND LEU-353; VARIANT LEU-457;
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.