Reactome | SERPING1 V288E [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
dbId	9650415
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 V288E [endoplasmic reticulum lumen]
endCoordinate	500
hasModifiedResidue	[ReplacedResidue:9650422] L-valine 288 replaced with L-glutamic acid
inDisease	true
literatureReference	[LiteratureReference:9650573] Dominant-negative SERPING1 variants cause intracellular retention of C1 inhibitor in hereditary angioedema
maxDepth	1
memberOf	[CandidateSet:R-HSA-9650455] Non-secretable SERPING1 variants [endoplasmic reticulum lumen] - Homo sapiens
name	SERPING1 V288E C1Inh V288E plasma protease C1 inhibitor V288E C1-In V288E
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650415
startCoordinate	23

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