Reactome | F9(29-461) C28* [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] - Homo sapiens
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9672834] Shamovsky, Veronica, 2020-01-03
crossReference	[DatabaseIdentifier:9672849] ClinGen:CA255370
dbId	9672840
displayName	F9(29-461) C28* [endoplasmic reticulum lumen]
endCoordinate	461
hasModifiedResidue	[NonsenseMutation:9672838] Nonsense mutation at L-cysteine 28
inDisease	false
literatureReference	[LiteratureReference:9672847] Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B [LiteratureReference:9672846] Identification of novel and recurrent mutations in Tunisian haemophilia B patients
maxDepth	1
name	F9(29-461) C28* factor IX propeptide C28TER
referenceEntity	[ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9672840
startCoordinate	29

(hasCandidate)

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