Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

F8 R1329H [endoplasmic reticulum lumen] Show undefined attributes

compartment

[Compartment:17957] endoplasmic reticulum lumen

created [InstanceEdit:9663095] Shamovsky, Veronica, 2019年09月25日

crossReference

[DatabaseIdentifier:11944959] Mondo:0010602

dbId 9663089

disease

[Disease:9661959] factor VIII deficiency

displayName F8 R1329H [endoplasmic reticulum lumen]

endCoordinate 2351

hasModifiedResidue

[ReplacedResidue:9663093] L-arginine 1329 replaced with L-histidine

inDisease true

literatureReference

[LiteratureReference:9662336] Effect of F8 B domain gene variants on synthesis, secretion, activity and stability of factor VIII protein

maxDepth 1

memberOf

[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] - Homo sapiens

name

F8 R1329H
FVIII R1329H

referenceEntity [ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-9663089

startCoordinate 20

Referrals

(hasMember)

[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen]

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