Reactome | SERPING1 R466H [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:9650469] Shamovsky, Veronica, 2019-06-21
crossReference	[DatabaseIdentifier:12020817] Mondo:0007361 [DatabaseIdentifier:9674121] ClinGen:CA116519
dbId	9650560
disease	[Disease:9650398] C1 inhibitor deficiency
displayName	SERPING1 R466H [extracellular region]
endCoordinate	500
hasModifiedResidue	[ReplacedResidue:9650412] L-arginine 466 replaced with L-histidine
inDisease	true
maxDepth	1
memberOf	[CandidateSet:R-HSA-9650491] HAE type 2-causing SERPING1 variants [extracellular region] - Homo sapiens
modified	[InstanceEdit:9674110] Shamovsky, Veronica, 2020-01-10
name	SERPING1 R466H C1Inh R466H plasma protease C1 inhibitor R466H C1-In R466H
referenceEntity	[ReferenceGeneProduct:uniprot:P05155] UniProt:P05155 SERPING1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9650560
startCoordinate	23

(hasMember)

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