[Term]
id: PR:000081047
name: a disintegrin and metalloproteinase with thrombospondin motifs 13 sequence variant A250V, mature form (human)
def: "An a disintegrin and metalloproteinase with thrombospondin motifs 13 (human) that has a Val residue at the position equivalent to Ala-250 of the amino acid sequence represented by UniProtKB:Q76LX8-1 and that has had the signal peptide and propeptide removed. Example: UniProtKB:Q76LX8-1, 75-1427, Ala-250, CHEBI:30015." [PRO:DNx, Reactome:R-HSA-9824393]
comment: Category=organism-modification.
synonym: "hADAMTS13/var:A250V/mature" EXACT PRO-short-label [PRO:DNx]
synonym: "UniProtKB:Q76LX8, 75-1427, Ala-250, CHEBI:30015" EXACT PRO-proteoform-std [PRO:DNx]
synonym: "UniProtKB:Q76LX8-1, 75-1427, Ala-250, CHEBI:30015" NARROW PRO-proteoform-std [PRO:DNx]
synonym: "ADAMTS13 A250V" RELATED Reactome-displayName [PRO:DNx, Reactome:R-HSA-9824393]
xref: Reactome:R-HSA-9824393 "PR:000081047 located_in GO:0005576"
is_a: PR:Q76LX8 ! a disintegrin and metalloproteinase with thrombospondin motifs 13 (human)
relationship: only_in_taxon NCBITaxon:9606 ! Homo sapiens
relationship: lacks_part SO:0000418 ! signal_peptide
relationship: lacks_part SO:0001062 ! propeptide