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Details on Person FGFR3 A391E [plasma membrane]

Class:Id	EntityWithAccessionedSequence:1614390
_displayName	FGFR3 A391E [plasma membrane]
_timestamp	2014-11-20 17:28:10
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:1614392] Rothfels, K, 2011-09-28
crossReference	[DatabaseIdentifier:2065818] COSMIC:COSV53391630
disease	[Disease:1493885] bladder carcinoma [Disease:1625203] Crouzon syndrome [Disease:2032940] bone development disease [Disease:1500689] cancer
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1614391] L-alanine 391 replaced with L-glutamic acid
literatureReference	[LiteratureReference:2065829] FGFR3 dimer stabilization due to a single amino acid pathogenic mutation [LiteratureReference:1637853] Novel fibroblast growth factor receptor 3 (FGFR3) mutations in bladder cancer previously identified in non-lethal skeletal disorders [LiteratureReference:2065827] Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans
modified	[InstanceEdit:1637850] Rothfels, K, 2011-10-05 [InstanceEdit:2018704] Rothfels, K, 2011-11-24 [InstanceEdit:2065828] Rothfels, K, 2012-01-24 [InstanceEdit:5649559] Rothfels, Karen, 2014-11-20
name	FGFR3 A391E
referenceEntity	[ReferenceGeneProduct:403340] UniProt:P22607 FGFR3 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:2296481] R-HSA-1614390.1
startCoordinate	23
(hasCandidate)	[CandidateSet:2018770] FGFR3 point mutants with enhanced kinase activity [plasma membrane] [Homo sapiens]
(hasComponent)	[Complex:2065831] FGFR3 A319E mutant dimer [plasma membrane] [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9889961] Update Tracker - [EntityWithAccessionedSequence:1614390] FGFR3 A391E [plasma membrane] - v52:[modifyName]
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No pathways have been reviewed or authored by FGFR3 A391E [plasma membrane] (1614390)