Reactome | F8 C348R [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9662041] Shamovsky, Veronica, 2019-09-19
dbId	9661986
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 C348R [endoplasmic reticulum lumen]
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9661942] L-cysteine 348 replaced with L-arginine
inDisease	true
literatureReference	[LiteratureReference:9662005] Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis
name	F8 C348R FVIII C348R
referenceEntity	[ReferenceGeneProduct:54602] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9661986
startCoordinate	20

(hasCandidate)

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