Reactome | FGFR3b S249C [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

FGFR3b S249C [plasma membrane] Show undefined attributes

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-1226110] FGFR3b S249C mutant dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:1226104] Rothfels, K, 2011-03-08
crossReference	[DatabaseIdentifier:2023342] COSMIC:COSV53390026 [DatabaseIdentifier:2023326] COSMIC:COSM29427
dbId	1226109
disease	[Disease:1493885] bladder carcinoma [Disease:2032940] bone development disease [Disease:1500689] cancer [Disease:1614672] cervical cancer [Disease:1248679] head and neck squamous cell carcinoma [Disease:1655499] prostate cancer [Disease:1625209] thanatophoric dysplasia
displayName	FGFR3b S249C [plasma membrane]
endCoordinate	806
hasModifiedResidue	[ReplacedResidue:1226108] L-serine 249 replaced with L-cysteine
inDisease	true
literatureReference	[LiteratureReference:1226112] Frequent activating mutations of FGFR3 in human bladder and cervix carcinomas [LiteratureReference:2064376] Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I [LiteratureReference:2064369] Fibroblast growth factor receptor 3 S249C mutation in virus associated squamous cell carcinomas [LiteratureReference:2064373] FGFR3 mutations in prostate cancer: association with low-grade tumors
memberOf	[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:5649572] Rothfels, Karen, 2014-11-20
name	FGFR3b S249C Fibroblast growth factor receptor 3b S249C FGR3_HUMAN S249C FGFR3-2 S249C
referenceEntity	[ReferenceIsoform:147316] UniProt:P22607-2 FGFR3
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-1226109
startCoordinate	23

Referrals

(hasMember)	[DefinedSet:R-HSA-2012043] FGFR3 cysteine mutants [plasma membrane]
(hasComponent)	[Complex:R-HSA-1226110] FGFR3b S249C mutant dimer [plasma membrane]

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