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Details on Person CFH L1189R [extracellular region]

Class:Id	EntityWithAccessionedSequence:4416721
_displayName	CFH L1189R [extracellular region]
_timestamp	2016-07-15 23:50:02
compartment	[Compartment:984] extracellular region
created	[InstanceEdit:4416674] Shamovsky, V, 2013-08-26
endCoordinate	1231
hasModifiedResidue	[ReplacedResidue:4416679] L-leucine 1189 replaced with L-arginine
literatureReference	[LiteratureReference:4416712] Functional analysis in serum from atypical Hemolytic Uremic Syndrome patients reveals impaired protection of host cells associated with mutations in factor H [LiteratureReference:4416644] Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome
modified	[InstanceEdit:8879177] Wu, G, 2016-07-15
name	CFH L1189R Complement factor H L1189R variant CFAH_HUMAN
referenceEntity	[ReferenceGeneProduct:51922] UniProt:P08603 CFH [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:8910137] R-HSA-4416721.1
startCoordinate	19
(hasCandidate)	[CandidateSet:5260236] aHUS-associated CFH variants set 1 [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by CFH L1189R [extracellular region] (4416721)