Reactome | F8 D337N [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9673151] Shamovsky, Veronica, 2020-01-06
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602
dbId	9673152
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 D337N [endoplasmic reticulum lumen]
endCoordinate	2351
hasModifiedResidue	[ReplacedResidue:9673153] L-aspartic acid 337 replaced with L-asparagine
inDisease	true
literatureReference	[LiteratureReference:9673150] Splicing analysis of 26 F8 nucleotide variations using a minigene assay
maxDepth	1
memberOf	[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] - Homo sapiens
name	F8 D337N FVIII D337N
referenceEntity	[ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9673152
startCoordinate	20

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