Variant position: 1239 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 RPLGEVVTLRVLESSLNCSA GDMLLLWGRLTWRKMCRKLLD
Mouse RPLGEVVTLQILESSLKCSA GEQLLLWGRFTWRKTCRKMPG
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
1192 – 1298 CUB 1
1235 – 1235 N-linked (GlcNAc...) asparagine
693 – 1427 Missing. In isoform 4.
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity.
Peyvandi F.; Lavoretano S.; Palla R.; Valsecchi C.; Merati G.; De Cristofaro R.; Rossi E.; Mannuccio Mannucci P.;
Hum. Mutat. 27:330-336(2006)
Cited for: VARIANTS TTP MET-88 AND VAL-1239; CHARACTERIZATION OF VARIANTS TTP MET-88 AND VAL-1239;
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