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Details on Person FGFR2c W290G [plasma membrane]

Class:Id	EntityWithAccessionedSequence:2029883
_displayName	FGFR2c W290G [plasma membrane]
_timestamp	2014-11-20 17:28:00
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2029884] Rothfels, K, 2012-01-05
disease	[Disease:1625203] Crouzon syndrome [Disease:2011836] Pfeiffer syndrome [Disease:2032940] bone development disease
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:2029821] L-tryptophan 290 replaced with glycine
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
modified	[InstanceEdit:2033282] Rothfels, K, 2012-01-09 [InstanceEdit:3612887] Jupe, S, 2013-05-23 [InstanceEdit:5649557] Rothfels, Karen, 2014-11-20
name	FGFR2c W290G FGFR2-1 W290G
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2297086] R-HSA-2029883.1
startCoordinate	21
(hasComponent)	[Complex:2029930] FGFR2c W290G mutant dimer [plasma membrane] [Homo sapiens]
(hasMember)	[CandidateSet:2029955] FGFR2 ligand-independent mutants [plasma membrane] [Homo sapiens]
(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]
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No pathways have been reviewed or authored by FGFR2c W290G [plasma membrane] (2029883)