Reactome | F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9666357] Shamovsky, Veronica, 2019-11-05
crossReference	[DatabaseIdentifier:12020814] Mondo:0010602 [DatabaseIdentifier:9672535] ClinVar:RCV000010863
dbId	9666368
disease	[Disease:9661959] factor VIII deficiency
displayName	F8 A20_M2143delinsMRIQDPGK [endoplasmic reticulum lumen]
endCoordinate	2351
hasModifiedResidue	[FragmentReplacedModification:9666343] Replacement of residues 20 to 2143 by MRIQDPGK
inDisease	true
literatureReference	[LiteratureReference:9666369] Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A [LiteratureReference:9666359] The intron-22-inverted F8 locus permits factor VIII synthesis: explanation for low inhibitor risk and a role for pharmacogenomics
maxDepth	1
memberOf	[CandidateSet:R-HSA-9661970] Non-secretable F8 variant [endoplasmic reticulum lumen] - Homo sapiens
modified	[InstanceEdit:9672533] Shamovsky, Veronica, 2019-12-27
name	F8 A20_M2143delinsMRIQDPGK FVIII A20_M2143delinsMRIQDPGK
referenceEntity	[ReferenceGeneProduct:uniprot:P00451] UniProt:P00451 F8
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9666368
startCoordinate	20

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