Reactome | F8 A2220del [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9665826] Shamovsky, Veronica, 2019-11-01
dbId	9665793
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 A2220del [extracellular region]
endCoordinate	2351
hasModifiedResidue	[FragmentDeletionModification:9665841] Deletion of residues 2220 to 2220
inDisease	true
literatureReference	[LiteratureReference:9665814] Storage of factor VIII variants with impaired von Willebrand factor binding in Weibel-Palade bodies in endothelial cells [LiteratureReference:9665800] Deletion of alanine 2201 in the FVIII C2 domain results in mild hemophilia A by impairing FVIII binding to VWF and phospholipids and destroys a major FVIII antigenic determinant involved in inhibitor development
memberOf	[DefinedSet:R-HSA-9670218] F8 A3-C1-C2 variants defective in phospholipid binding. [extracellular region] - Homo sapiens [CandidateSet:R-HSA-9665831] FVIII C1, C2 domain variants [extracellular region] - Homo sapiens
name	F8 A2220del FVIII A2220del
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9665793
startCoordinate	1668

(hasMember)