Reactome | F8 G720D [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
dbId	9661941
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 G720D [endoplasmic reticulum lumen]
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9661935] glycine 720 replaced with L-aspartic acid
inDisease	true
literatureReference	[LiteratureReference:9662027] Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype
name	F8 G720D FVIII G720D
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9661941
startCoordinate	20

(hasCandidate)

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