Reactome | F8 R391H [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9667121] Shamovsky, Veronica, 2019-11-07
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602 [DatabaseIdentifier:9672524] ClinGen:CA120918
dbId	9667120
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 R391H [extracellular region]
endCoordinate	759
hasModifiedResidue	[ReplacedResidue:9667125] L-arginine 391 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:9665856] Thrombin-catalyzed activation of factor VIII with His substituted for Arg372 at the P1 site [LiteratureReference:9668183] Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine)
maxDepth	1
memberOf	[CandidateSet:R-HSA-9667122] F8 heavy chain thrombin cleavage site variants [extracellular region] - Homo sapiens
modified	[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
name	F8 R391H FVIII R391H
referenceEntity	[ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9667120
startCoordinate	20

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