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Details on Person p-8Y-FGFR2c W290G [plasma membrane]

Class:Id	EntityWithAccessionedSequence:2029862
_displayName	p-8Y-FGFR2c W290G [plasma membrane]
_timestamp	2014-11-20 17:35:13
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2029863] Rothfels, K, 2012-01-05
disease	[Disease:2011836] Pfeiffer syndrome [Disease:1625203] Crouzon syndrome
endCoordinate	821
hasModifiedResidue	[ModifiedResidue:1307864] O4'-phospho-L-tyrosine at 466 [ModifiedResidue:1307872] O4'-phospho-L-tyrosine at 586 [ModifiedResidue:1307873] O4'-phospho-L-tyrosine at 588 [ModifiedResidue:1307882] O4'-phospho-L-tyrosine at 656 [ModifiedResidue:1307883] O4'-phospho-L-tyrosine at 657 [ModifiedResidue:1307889] O4'-phospho-L-tyrosine at 733 [ModifiedResidue:1307900] O4'-phospho-L-tyrosine at 769 [ModifiedResidue:1307907] O4'-phospho-L-tyrosine at 779 [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:3612887] Jupe, S, 2013-05-23 [InstanceEdit:5649625] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2c W290G p-8Y-FGFR2-1 W290G
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2299447] R-HSA-2029862.1
startCoordinate	22
(hasComponent)	[Complex:2029913] Activated FGFR2c W290G mutant [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9881452] Update Tracker - [EntityWithAccessionedSequence:2029862] p-8Y-FGFR2c W290G [plasma membrane] - v45:[addName] [_UpdateTracker:9891623] Update Tracker - [EntityWithAccessionedSequence:2029862] p-8Y-FGFR2c W290G [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by p-8Y-FGFR2c W290G [plasma membrane] (2029862)