Reactome | SERPING1 G184_P228del [endoplasmic reticulum lumen]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:17957] endoplasmic reticulum lumen
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:12020817] Mondo:0007361 [DatabaseIdentifier:9674115] ClinGen:CA645509450
dbId	9650472
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 G184_P228del [endoplasmic reticulum lumen]
endCoordinate	500
hasModifiedResidue	[FragmentDeletionModification:9650357] Deletion of residues 184 to 228
inDisease	true
literatureReference	[LiteratureReference:9650573] Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema [LiteratureReference:9651384] Mutational spectrum of the SERPING1 gene in Swiss patients with hereditary angioedema
maxDepth	1
memberOf	[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] - Homo sapiens
modified	[InstanceEdit:9674110] Shamovsky, Veronica, 2020-01-10
name	SERPING1 G184_P228del C1Inh G184_P228del plasma protease C1 inhibitor G184_P228del C1-In G184_P228del
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650472
startCoordinate	23

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