Reactome | FGFR2 N549H [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033341] FGFR2 N549H mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2033341] FGFR2 N549H mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2033295] Rothfels, K, 2012-01-09
crossReference	[DatabaseIdentifier:12021291] Mondo:0007405
dbId	2033296
disease	[Disease:1625203] Crouzon syndrome [Disease:2032940] bone development disease
displayName	FGFR2 N549H [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:2033294] L-asparagine 549 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:2033246] Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
maxDepth	1
memberOf	[CandidateSet:R-HSA-2033351] FGFR2 mutants with enhanced kinase activity [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649533] Rothfels, Karen, 2014-11-20
name	FGFR2 N549H
referenceEntity	[ReferenceGeneProduct:uniprot:P21802] UniProt:P21802 FGFR2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2033296
startCoordinate	22
updateTrackers	[UpdateTracker:9889884] Update Tracker - [EntityWithAccessionedSequence:2033296] FGFR2 N549H [plasma membrane] - v52:[modifyName]

(updatedInstance)	[UpdateTracker:9889884] Update Tracker - [EntityWithAccessionedSequence:2033296] FGFR2 N549H [plasma membrane] - v52:[modifyName]
(hasComponent)	[Complex:R-HSA-2033341] FGFR2 N549H mutant dimer [plasma membrane]
(hasMember)	[CandidateSet:R-HSA-2033351] FGFR2 mutants with enhanced kinase activity [plasma membrane]

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