Reactome | NOTCH1 P2514Rfs*4 Transmembrane Fragment [plasma membrane]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:876] plasma membrane
componentOf	[Complex:R-HSA-2894869] NOTCH1 L1600P;P2514Rfs*4 [plasma membrane] - Homo sapiens
created	[InstanceEdit:2768979] Orlic-Milacic, M, 2012-12-10
crossReference	[DatabaseIdentifier:2220871] COSMIC:COSV53024776 [DatabaseIdentifier:2220869] COSMIC:COSM33946
dbId	2768982
disease	[Disease:1485587] T-cell acute lymphoblastic leukemia [Disease:1500689] cancer
displayName	NOTCH1 P2514Rfs*4 Transmembrane Fragment [plasma membrane]
endCoordinate	2516
hasModifiedResidue	[FragmentReplacedModification:9827803] Replacement of residues 2514 to 2516 by RVP
inDisease	true
literatureReference	[LiteratureReference:1485609] Activating mutations of NOTCH1 in human T cell acute lymphoblastic leukemia
modified	[InstanceEdit:9827806] Orlic-Milacic, Marija, 2023-02-06
name	NOTCH1 P2514Rfs4 Transmembrane Fragment NOTCH1 Pro2514Argfs4 Transmembrane Fragment NOTCH1 PEST domain mutant P2514Rfs*4 transmembrane fragment
referenceEntity	[ReferenceGeneProduct:60520] UniProt:P46531 NOTCH1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-2768982
startCoordinate	1665

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