Reactome | F9(227-461) S411I [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:9671008] Shamovsky, Veronica, 2019-12-18
crossReference	[DatabaseIdentifier:9671018] ClinGen:CA255439
dbId	9671010
disease	[Disease:9670882] hemophilia B
displayName	F9(227-461) S411I [plasma membrane]
endCoordinate	461
hasModifiedResidue	[ReplacedResidue:9671019] L-serine 411 replaced with L-isoleucine
inDisease	true
literatureReference	[LiteratureReference:9671002] Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX
memberOf	[CandidateSet:R-HSA-9670837] F9(227-461) variant [plasma membrane] - Homo sapiens
name	F9(227-461) S411I factor IXa heavy chain S411I
referenceEntity	[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9671010
startCoordinate	227

(hasMember)

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