Reactome | F8(392-759) R550H [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9670053] Shamovsky, Veronica, 2019-12-04
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602 [DatabaseIdentifier:9672538] ClinGen:CA255115
dbId	9670041
disease	[Disease:9661959] factor VIII deficiency
displayName	F8(392-759) R550H [extracellular region]
endCoordinate	759
hasModifiedResidue	[ReplacedResidue:9670029] L-arginine 550 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9670046] Mild hemophilia A caused by increased rate of factor VIII A2 subunit dissociation: evidence for nonproteolytic inactivation of factor VIIIa in vivo [LiteratureReference:9670042] Hemophilia A mutations associated with 1-stage/2-stage activity discrepancy disrupt protein-protein interactions within the triplicated A domains of thrombin-activated factor VIIIa
maxDepth	1
memberOf	[CandidateSet:R-HSA-9670027] F8(392-759) A2 domain variant [extracellular region] - Homo sapiens
modified	[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
name	F8(392-759) R550H FVIIIa R550H A2 polypeptide F8 R550H A2 polypeptide
referenceEntity	[ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9670041
startCoordinate	392

(hasMember)

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