Reactome | p-6Y-FGFR3 A391E [plasma membrane]

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p-6Y-FGFR3 A391E [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2065834] Activated FGFR3 A391E mutant [plasma membrane] - Homo sapiens
created	[InstanceEdit:2065833] Rothfels, K, 2012-01-24
crossReference	[DatabaseIdentifier:2065818] COSMIC:COSV53391630
dbId	2065835
disease	[Disease:1493885] bladder carcinoma [Disease:2032940] bone development disease [Disease:1500689] cancer [Disease:1625203] Crouzon syndrome
displayName	p-6Y-FGFR3 A391E [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ModifiedResidue:2032947] O4'-phospho-L-tyrosine at unknown position [ReplacedResidue:1614391] L-alanine 391 replaced with L-glutamic acid
inDisease	true
literatureReference	[LiteratureReference:2065829] FGFR3 dimer stabilization due to a single amino acid pathogenic mutation [LiteratureReference:2065827] Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans [LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders
modified	[InstanceEdit:5649591] Rothfels, Karen, 2014-11-20
name	p-6Y-FGFR3 A391E
referenceEntity	[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2065835
startCoordinate	23

Referrals

(hasComponent)

[Complex:R-HSA-2065834] Activated FGFR3 A391E mutant [plasma membrane]

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