Reactome | p-8Y-FGFR2c P253R [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

p-8Y-FGFR2c P253R [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2011967] p-8Y-FGFR2c P253R dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-2011967] p-8Y-FGFR2c P253R dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:2011881] Rothfels, K, 2011-11-22
crossReference	[DatabaseIdentifier:12020831] Mondo:0019796
dbId	2011880
disease	[Disease:1614674] female reproductive endometrioid cancer [Disease:2011822] acrocephalosyndactylia
displayName	p-8Y-FGFR2c P253R [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ReplacedResidue:1637915] L-proline 253 replaced with L-arginine [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
inDisease	true
literatureReference	[LiteratureReference:1637882] Drug-sensitive FGFR2 mutations in endometrial carcinoma [LiteratureReference:1637876] Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome [LiteratureReference:2011820] Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity
maxDepth	1
modified	[InstanceEdit:5649622] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2c P253R p-8Y-FGFR2-1 P253R
referenceEntity	[ReferenceIsoform:uniprot:P21802-1] UniProt:P21802-1 FGFR2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2011880
startCoordinate	22
summation	[Summation:1637914] also Apert
updateTrackers	[UpdateTracker:9883298] Update Tracker - [EntityWithAccessionedSequence:2011880] p-8Y-FGFR2c P253R [plasma membrane] - v45:[addName] [UpdateTracker:9891581] Update Tracker - [EntityWithAccessionedSequence:2011880] p-8Y-FGFR2c P253R [plasma membrane] - v52:[modifyName]

Referrals

(updatedInstance)	[UpdateTracker:9883298] Update Tracker - [EntityWithAccessionedSequence:2011880] p-8Y-FGFR2c P253R [plasma membrane] - v45:[addName] [UpdateTracker:9891581] Update Tracker - [EntityWithAccessionedSequence:2011880] p-8Y-FGFR2c P253R [plasma membrane] - v52:[modifyName]
(hasComponent)	[Complex:R-HSA-2011967] p-8Y-FGFR2c P253R dimer [plasma membrane]