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Query author contributions in Reactome

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Details on Person CFH V1197A [extracellular region]

Class:IdEntityWithAccessionedSequence:4416645
_displayNameCFH V1197A [extracellular region]
_timestamp2016-07-15 23:50:50
compartment[Compartment:984] extracellular region
created[InstanceEdit:4416674] Shamovsky, V, 2013-08-26
endCoordinate1231
hasModifiedResidue[ReplacedResidue:4416663] L-valine 1197 replaced with L-alanine
literatureReference[LiteratureReference:4416668] De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome
[LiteratureReference:4416670] Factor H and atypical hemolytic uremic syndrome: mutations in the C-terminus cause structural changes and defective recognition functions
[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:4416616] Relative role of genetic complement abnormalities in sporadic and familial aHUS and their impact on clinical phenotype
[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
nameCFH V1197A
Complement factor H V1197A variant
CFAH_HUMAN
referenceEntity[ReferenceGeneProduct:51922] UniProt:P08603 CFH [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:8929835] R-HSA-4416645.1
startCoordinate19
(hasCandidate)[CandidateSet:5260236] aHUS-associated CFH variants set 1 [extracellular region] [Homo sapiens]
(hasMember)[CandidateSet:4416627] aHUS-associated CFH variants set 2 [extracellular region] [Homo sapiens]
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No pathways have been reviewed or authored by CFH V1197A [extracellular region] (4416645)
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