Variant position: 606 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 ANHRPLFTHLAVRIGGRYVV AGKMSISPNTTYPSLLEDGRV
Mouse VNRRPLFTHLAVRIQGHYIV AGKTSISPNTTYPSLLEDYRV
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
556 – 685 Spacer
614 – 614 N-linked (GlcNAc...) asparagine
Pregnancy-induced thrombocytopenia and TTP, and the risk of fetal death, in Upshaw-Schulman syndrome: a series of 15 pregnancies in 9 genotyped patients.
Fujimura Y.; Matsumoto M.; Kokame K.; Isonishi A.; Soejima K.; Akiyama N.; Tomiyama J.; Natori K.; Kuranishi Y.; Imamura Y.; Inoue N.; Higasa S.; Seike M.; Kozuka T.; Hara M.; Wada H.; Murata M.; Ikeda Y.; Miyata T.; George J.N.;
Br. J. Haematol. 144:742-754(2009)
Cited for: VARIANTS TTP THR-178; TRP-193; CYS-304; CYS-349; ASP-525 AND PRO-606; VARIANTS ARG-339; GLU-448 AND ALA-618;
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