Reactome | Variant cystatin-C [extracellular region]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:984] extracellular region
created	[InstanceEdit:976925] Jupe, S, 2010-10-14
dbId	976891
displayName	Variant cystatin-C [extracellular region]
endCoordinate	146
hasModifiedResidue	[ReplacedResidue:976863] L-leucine 68 replaced with L-glutamine
inDisease	false
literatureReference	[LiteratureReference:976879] Mutation in cystatin C gene causes hereditary brain haemorrhage
maxDepth	1
memberOf	[DefinedSet:R-HSA-977105] Systemic amyloid fibril monomers [extracellular region] - Homo sapiens
modified	[InstanceEdit:6791062] D'Eustachio, Peter, 2015-08-18
name	Variant cystatin-C CST3 L68Q CST3 CYTC_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:P01034] UniProt:P01034 CST3
referenceType	ReferenceGeneProduct
repeatedUnitOf	[Polymer:R-HSA-976935] Variant cystatin-C fibril [extracellular region] - Homo sapiens
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-976891
startCoordinate	27
updateTrackers	[UpdateTracker:9892620] Update Tracker - [EntityWithAccessionedSequence:976891] Variant cystatin-C [extracellular region] - v54:[addName]

(updatedInstance)	[UpdateTracker:9892620] Update Tracker - [EntityWithAccessionedSequence:976891] Variant cystatin-C [extracellular region] - v54:[addName]
(hasMember)	[DefinedSet:R-HSA-977105] Systemic amyloid fibril monomers [extracellular region]
(repeatedUnit)	[Polymer:R-HSA-976935] Variant cystatin-C fibril [extracellular region]

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