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Reaction
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Entries
FGFR3c P250R mutant binds to ligand with enhanced affinity
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authored
[InstanceEdit:2105031] Rothfels, K, 2012年02月09日
category
binding
compartment
[Compartment:876] plasma membrane
[Compartment:984] extracellular region
created
[InstanceEdit:2012075] Rothfels, K, 2011年11月22日
crossReference
[DatabaseIdentifier:11944974] Mondo:0019796
[DatabaseIdentifier:11944975] Mondo:0015469
dbId
2012074
disease
[Disease:2011822] acrocephalosyndactylia
[Disease:2011847] craniosynostosis
displayName
FGFR3c P250R mutant binds to ligand with enhanced affinity
edited
[InstanceEdit:2252592] Rothfels, K, 2012年05月16日
entityFunctionalStatus
[EntityFunctionalStatus:5654524] gain_of_function of FGFR3c P250R [plasma membrane]
eventOf
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3 - Homo sapiens
followingEvent
[Reaction:R-HSA-2012073] Autocatalytic phosphorylation of FGFR3c P250R mutant - Homo sapiens
input
2 ×
[EntityWithAccessionedSequence:R-HSA-2011857] FGFR3c P250R [plasma membrane]
2 ×
[DefinedSet:R-HSA-189955] FGFR3c-binding FGFs [extracellular region]
[SimpleEntity:R-ALL-190915] HS [extracellular region]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[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:2045069] Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes
[LiteratureReference:2060840] Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis
[LiteratureReference:2012014] Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
[LiteratureReference:2029802] Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
maxDepth
1
modified
[InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
FGFR3c P250R mutant binds to ligand with enhanced affinity
output
[Complex:R-HSA-2011952] FGFR3c P250R mutant dimer bound to FGF [plasma membrane]
releaseDate
2012年06月12日
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:2248845] Ezzat, S, 2012年05月15日
schemaClass
Reaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2012074
summation
[Summation:2064375] FGFR3 P350R is associated with the development of Muenke syn...
Referrals
(precedingEvent)
[Reaction:R-HSA-2012073] Autocatalytic phosphorylation of FGFR3c P250R mutant
(hasEvent)
[Pathway:R-HSA-1839130] Signaling by activated point mutants of FGFR3
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