Reactome | ALK R1275Q [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-9700021] ALK R1275Q dimer [plasma membrane] - Homo sapiens [Complex:R-HSA-9700021] ALK R1275Q dimer [plasma membrane] - Homo sapiens
created	[InstanceEdit:9699845] Rothfels, Karen, 2020-09-14
crossReference	[DatabaseIdentifier:12021383] Mondo:0005072 [DatabaseIdentifier:9699919] COSMIC:COSV66555567 [DatabaseIdentifier:9699816] COSMIC:COSM88797
dbId	9699853
disease	[Disease:9671652] neuroblastoma
displayName	ALK R1275Q [plasma membrane]
endCoordinate	1620
hasModifiedResidue	[ReplacedResidue:9699848] L-arginine 1275 replaced with L-glutamine
inDisease	true
literatureReference	[LiteratureReference:9699668] Crystal structure of the ALK (anaplastic lymphoma kinase) catalytic domain [LiteratureReference:9700412] Activating mutations in ALK provide a therapeutic target in neuroblastoma [LiteratureReference:9701722] Identification of ALK as a major familial neuroblastoma predisposition gene
maxDepth	1
memberOf	[CandidateSet:R-HSA-9700083] kinase domain ALK mutants [plasma membrane] - Homo sapiens
modified	[InstanceEdit:9701908] Rothfels, Karen, 2020-09-28
name	ALK R1275Q ALK tyrosine kinase receptor ALK_HUMAN
referenceEntity	[ReferenceGeneProduct:uniprot:Q9UM73] UniProt:Q9UM73 ALK
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9699853
startCoordinate	19

(hasMember)	[CandidateSet:R-HSA-9700083] kinase domain ALK mutants [plasma membrane]
(hasComponent)	[Complex:R-HSA-9700021] ALK R1275Q dimer [plasma membrane]

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