Reactome | F9(227-461) R384L [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9668258] FIXa R384L [plasma membrane] - Homo sapiens
created	[InstanceEdit:9668266] Shamovsky, Veronica, 2019-11-22
crossReference	[DatabaseIdentifier:12020815] Mondo:0002305 [DatabaseIdentifier:9670649] ClinGen:CA121138
dbId	9668263
disease	[Disease:9668251] thrombophilia
displayName	F9(227-461) R384L [plasma membrane]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9668245] L-arginine 384 replaced with L-leucine
inDisease	true
literatureReference	[LiteratureReference:9668256] X-linked thrombophilia with a mutant factor IX (factor IX Padua)
maxDepth	1
modified	[InstanceEdit:9670650] Shamovsky, Veronica, 2019-12-12
name	F9(227-461) R384L factor IXa heavy chain R384L
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9668263
startCoordinate	227

(hasComponent)

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