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Details on Person aHUS-associated CFH variants set 2 [extracellular region]

Class:Id	CandidateSet:4416627
_displayName	aHUS-associated CFH variants set 2 [extracellular region]
_timestamp	2016-07-15 23:50:40
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:4416674] Shamovsky, V, 2013-08-26
hasCandidate	[EntityWithAccessionedSequence:4416704] CFH W1183L [extracellular region] [Homo sapiens]
hasMember	[EntityWithAccessionedSequence:4416686] CFH D1119G [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416664] CFH W1157R [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416655] CFH P1166L [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416653] CFH E1172X [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416656] CFH R1182S [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416619] CFH K1188del [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416709] CFH S1191L [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416667] CFH G1194D [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416645] CFH V1197A [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5260226] CFH R1206C [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416660] CFH R1210C [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:4416630] CFH R1215G [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5260241] CFH R1215Q [extracellular region] [Homo sapiens] [EntityWithAccessionedSequence:5148667] CFH P1226S [extracellular region] [Homo sapiens]
modified	[InstanceEdit:5260250] Shamovsky, V, 2014-02-07 [InstanceEdit:8879177] Wu, G, 2016-07-15
name	aHUS-associated CFH variants set 2 Impaired CFH-heparin binding (aHUS-associated CFH variants)
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:8925254] R-HSA-4416627.1
(diseaseEntity)	[EntityFunctionalStatus:5260216] loss_of_function of aHUS-associated CFH variants set 2 [extracellular region]
(input)	[FailedReaction:5260219] CFH variant decreases CFH binding to host cell surface [Homo sapiens]
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No pathways have been reviewed or authored by aHUS-associated CFH variants set 2 [extracellular region] (4416627)