Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

F9(29-461) A164V [endoplasmic reticulum lumen] Show undefined attributes

compartment

[Compartment:17957] endoplasmic reticulum lumen

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

crossReference

[DatabaseIdentifier:11944960] Mondo:0010604

dbId 9672442

disease

[Disease:9670882] hemophilia B

displayName F9(29-461) A164V [endoplasmic reticulum lumen]

endCoordinate 461

hasModifiedResidue

[ReplacedResidue:9672450] L-alanine 164 replaced with L-valine

inDisease true

literatureReference

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

maxDepth 1

memberOf

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

name

F9(29-461) A164V
factor IX propeptide A164V

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

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9672442

startCoordinate 29

Referrals

(hasMember)

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

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