Reactome | p-8Y-FGFR2 N549H [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2033315] Activated FGFR2 N549H mutant [plasma membrane] - Homo sapiens
created	[InstanceEdit:2033303] Rothfels, K, 2012-01-09
dbId	2033304
disease	[Disease:1625203] Crouzon syndrome [Disease:2032940] bone development disease
displayName	p-8Y-FGFR2 N549H [plasma membrane]
endCoordinate	821
hasModifiedResidue	[ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2029853] O4'-phospho-L-tyrosine at unknown position [ReplacedResidue:2033294] L-asparagine 549 replaced with L-histidine
inDisease	true
literatureReference	[LiteratureReference:2033246] Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis
modified	[InstanceEdit:5649610] Rothfels, Karen, 2014-11-20
name	p-8Y-FGFR2 N549H
referenceEntity	[ReferenceGeneProduct:403305] UniProt:P21802 FGFR2
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2033304
startCoordinate	22

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