Reactome | SERPING1 R400C [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:9674105] ClinGen:CA6008239
dbId	9650511
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 R400C [endoplasmic reticulum lumen]
endCoordinate	500
hasModifiedResidue	[ReplacedResidue:9650541] L-arginine 400 replaced with L-cysteine
inDisease	true
literatureReference	[LiteratureReference:9650416] Intermittent C1-Inhibitor Deficiency Associated with Recessive Inheritance: Functional and Structural Insight [LiteratureReference:9650530] A new case of homozygous C1-inhibitor deficiency suggests a role for Arg378 in the control of kinin pathway activation
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 R400C C1Inh R400C plasma protease C1 inhibitor R400C C1-In R400C
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650511
startCoordinate	23

(hasMember)

Cite Us!