Reactome | FGFR2c W290G [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR2c W290G [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2029930] FGFR2c W290G mutant dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2029930] FGFR2c W290G mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2029884] Rothfels, K, 2012-01-05
crossReference	[DatabaseIdentifier:12021291] Mondo:0007405
dbId	2029883
disease	[Disease:1625203] Crouzon syndrome [Disease:2011836] Pfeiffer syndrome [Disease:2032940] bone development disease
displayName	FGFR2c W290G [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:2029821] L-tryptophan 290 replaced with glycine
inDisease	true
literatureReference	[LiteratureReference:2029799] Activating mutations in the extracellular domain of the fibroblast growth factor receptor 2 function by disruption of the disulfide bond in the third immunoglobulin-like domain [LiteratureReference:2029812] Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome
maxDepth	1
memberOf	[CandidateSet:R-HSA-2029955] FGFR2 ligand-independent mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649557] Rothfels, Karen, 2014-11-20
name	FGFR2c W290G FGFR2-1 W290G
referenceEntity	[ReferenceIsoform:uniprot:P21802-1] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2029883
startCoordinate	21
updateTrackers	[UpdateTracker:9886551] Update Tracker - [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] - v45:[addName] [UpdateTracker:9892004] Update Tracker - [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9886551] Update Tracker - [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] - v45:[addName] [UpdateTracker:9892004] Update Tracker - [EntityWithAccessionedSequence:2029883] FGFR2c W290G [plasma membrane] - v52:[modifyName]
(hasComponent)	[Complex:R-HSA-2029930] FGFR2c W290G mutant dimer [plasma membrane]
(hasMember)	[CandidateSet:R-HSA-2029955] FGFR2 ligand-independent mutants [plasma membrane]