Reactome | SERPING1 Q484* [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] - Homo sapiens
compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:12020817] Mondo:0007361
dbId	9650410
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 Q484* [endoplasmic reticulum lumen]
endCoordinate	483
hasModifiedResidue	[NonsenseMutation:9650521] Nonsense mutation at L-glutamine 484
inDisease	true
literatureReference	[LiteratureReference:9650497] A single base deletion from the C1-inhibitor gene causes type I hereditary angio-oedema
maxDepth	1
modified	[InstanceEdit:9651389] Shamovsky, Veronica, 2019-06-25
name	SERPING1 Q484* C1Inh Q484* plasma protease C1 inhibitor Q484* C1-Inh Q484TER
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650410
startCoordinate	23

(hasCandidate)

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