Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

ADAMTS13 Q449* [extracellular region] Show undefined attributes

compartment

[Compartment:984] extracellular region

created [InstanceEdit:9824417] Shamovsky, Veronica, 2023年01月19日

crossReference

[DatabaseIdentifier:11944943] Mondo:0000009

dbId 9824391

disease

[Disease:9705355] blood platelet disease

displayName ADAMTS13 Q449* [extracellular region]

endCoordinate 448

hasModifiedResidue

[NonsenseMutation:9824412] Nonsense mutation at L-glutamine 449

inDisease true

literatureReference

[LiteratureReference:9824389] Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity

maxDepth 1

memberOf

[CandidateSet:R-HSA-9824403] ADAMTS13 variant [extracellular region] - Homo sapiens

name

ADAMTS13 Q449*
A disintegrin and metalloproteinase with thrombospondin motifs 13
ATS13_HUMAN

referenceEntity [ReferenceGeneProduct:uniprot:Q76LX8] UniProt:Q76LX8 ADAMTS13

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9824391

startCoordinate 75

Referrals

(hasMember)

[CandidateSet:R-HSA-9824403] ADAMTS13 variant [extracellular region]

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