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Details on Person p-8Y-FGFR2b S252W [plasma membrane]

Class:Id	EntityWithAccessionedSequence:2011874
_displayName	p-8Y-FGFR2b S252W [plasma membrane]
_timestamp	2014-11-20 17:34:06
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2011875] Rothfels, K, 2011-11-22
disease	[Disease:2011822] acrocephalosyndactylia [Disease:2011847] craniosynostosis [Disease:1500689] cancer [Disease:1614674] female reproductive endometrioid cancer [Disease:1500575] ovarian cancer [Disease:2032940] bone development disease
endCoordinate	822
hasModifiedResidue	[ReplacedResidue:2011849] L-serine 252 replaced with L-tryptophan [ModifiedResidue:190945] O4'-phospho-L-tyrosine at 467 [ModifiedResidue:190951] O4'-phospho-L-tyrosine at 587 [ModifiedResidue:190950] O4'-phospho-L-tyrosine at 589 [ModifiedResidue:190947] O4'-phospho-L-tyrosine at 657 [ModifiedResidue:190409] O4'-phospho-L-tyrosine at 658 [ModifiedResidue:190948] O4'-phospho-L-tyrosine at 734 [ModifiedResidue:190949] O4'-phospho-L-tyrosine at 770 [ModifiedResidue:1307909] O4'-phospho-L-tyrosine at 780
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 [LiteratureReference:2029807] FGFR2 mutations are rare across histologic subtypes of ovarian cancer
modified	[InstanceEdit:2029890] Rothfels, K, 2012-01-05 [InstanceEdit:2033291] Rothfels, K, 2012-01-09 [InstanceEdit:2065953] Rothfels, K, 2012-01-24 [InstanceEdit:3508354] Jupe, S, 2013-05-17 [InstanceEdit:5649615] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2b S252W p-8Y-FGFR2-3 S252W
referenceEntity	[ReferenceIsoform:147298] UniProt:P21802-3 FGFR2 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2295392] R-HSA-2011874.1
startCoordinate	22
summation	[Summation:1637914] also Apert
(hasComponent)	[Complex:2011957] p-8Y-FGFR2b P252W dimer [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9882621] Update Tracker - [EntityWithAccessionedSequence:2011874] p-8Y-FGFR2b S252W [plasma membrane] - v45:[modifyName] [_UpdateTracker:9891161] Update Tracker - [EntityWithAccessionedSequence:2011874] p-8Y-FGFR2b S252W [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by p-8Y-FGFR2b S252W [plasma membrane] (2011874)