Reactome | F9(29-461) R298* [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9672834] Shamovsky, Veronica, 2020-01-03
crossReference	[DatabaseIdentifier:9672849] ClinGen:CA255370
dbId	9672852
displayName	F9(29-461) R298* [endoplasmic reticulum lumen]
endCoordinate	461
hasModifiedResidue	[NonsenseMutation:9672836] Nonsense mutation at L-arginine 298
inDisease	false
literatureReference	[LiteratureReference:9672824] Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
memberOf	[CandidateSet:R-HSA-9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] - Homo sapiens
name	F9(29-461) R298* factor IX propeptide R298TER
referenceEntity	[ReferenceGeneProduct:54610] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9672852
startCoordinate	29

(hasMember)

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