Reactome | SERPING1 Q474* [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 [DatabaseIdentifier:9674116] ClinVar:VCV000626354.1
dbId	9650547
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 Q474* [endoplasmic reticulum lumen]
endCoordinate	473
hasModifiedResidue	[NonsenseMutation:9650361] Nonsense mutation at L-glutamine 474
inDisease	true
literatureReference	[LiteratureReference:9650328] Targeted next-generation sequencing for the molecular diagnosis of hereditary angioedema due to C1-inhibitor deficiency [LiteratureReference:9650430] F12-46C/T polymorphism as modifier of the clinical phenotype of hereditary angioedema
maxDepth	1
modified	[InstanceEdit:9674110] Shamovsky, Veronica, 2020-01-10
name	SERPING1 Q474* SERPING1 Q474TER C1-In Q474* plasma protease C1 inhibitor C1Inh Q474TER
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650547
startCoordinate	23

(hasCandidate)

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