Reactome | F8 H1066Y [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9662697] Shamovsky, Veronica, 2019-09-23
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9662693
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 H1066Y [endoplasmic reticulum lumen]
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9662691] L-histidine 1066 replaced with L-tyrosine
inDisease	true
literatureReference	[LiteratureReference:9662336] Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein
maxDepth	1
memberOf	[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] - Homo sapiens
name	F8 H1066Y FVIII H1066Y
referenceEntity	[ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9662693
startCoordinate	20

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