Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

F9(29-461) R162* [endoplasmic reticulum lumen] Show undefined attributes

candidateOf

[CandidateSet:R-HSA-9670852] Non-secretable F9 variant [endoplasmic reticulum lumen] - Homo sapiens

compartment

[Compartment:17957] endoplasmic reticulum lumen

created [InstanceEdit:9672454] Shamovsky, Veronica, 2019年12月26日

crossReference

dbId 9672447

disease

[Disease:9670882] hemophilia B

displayName F9(29-461) R162* [endoplasmic reticulum lumen]

endCoordinate 461

hasModifiedResidue

[NonsenseMutation:9672446] Nonsense mutation at L-arginine 162

inDisease true

literatureReference

[LiteratureReference:9672428] Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

maxDepth 1

name

F9(29-461) R162*
factor IX propeptide R162*
F9(29-461) R162TER

referenceEntity [ReferenceGeneProduct:uniprot:P00740] UniProt:P00740 F9

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9672447

startCoordinate 29

Referrals

(hasCandidate)

[CandidateSet:R-HSA-9670852] Non-secretable F9 variant [endoplasmic reticulum lumen]

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