Reactome | p-8Y-FGFR2c W290G [plasma membrane]

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p-8Y-FGFR2c W290G [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2029913] Activated FGFR2c W290G mutant [plasma membrane] - Homo sapiens
created	[InstanceEdit:2029863] Rothfels, K, 2012-01-05
dbId	2029862
disease	[Disease:2011836] Pfeiffer syndrome [Disease:1625203] Crouzon syndrome
displayName	p-8Y-FGFR2c W290G [plasma membrane]
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
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
modified	[InstanceEdit:5649625] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2c W290G p-8Y-FGFR2-1 W290G
referenceEntity	[ReferenceIsoform:54816] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2029862
startCoordinate	22

Referrals

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[Complex:R-HSA-2029913] Activated FGFR2c W290G mutant [plasma membrane]

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