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Details on Person p-S338,Y341,T492,S494,S621 RAF1 R256S [cytosol]

Class:Id	EntityWithAccessionedSequence:9656056
_displayName	p-S338,Y341,T492,S494,S621 RAF1 R256S [cytosol]
_timestamp	2019-07-27 15:15:03
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9656055] Rothfels, Karen, 2019-07-27
crossReference	[DatabaseIdentifier:9655993] ClinGen:CA261625 [DatabaseIdentifier:9655971] ClinGen:CA261623
disease	[Disease:6802289] Noonan syndrome
endCoordinate	648
hasModifiedResidue	[ModifiedResidue:109785] O-phospho-L-serine at 621 [ReplacedResidue:9655895] L-arginine 256 replaced with L-serine [ModifiedResidue:444234] O-phospho-L-serine at 338 [ModifiedResidue:109791] O4'-phospho-L-tyrosine at 341 [ModifiedResidue:5672662] O-phospho-L-threonine at 491 [ModifiedResidue:5672663] O-phospho-L-serine at 494
literatureReference	[LiteratureReference:444324] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
name	p-S338,Y341,T492,S494,S621 RAF1 R256S RAF proto-oncogene serine/threonine-protein kinase Raf-1 C-RAF cRaf
referenceEntity	[ReferenceGeneProduct:58255] UniProt:P04049 RAF1 [Homo sapiens]
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9656057] R-HSA-9656056.1
startCoordinate	1
(hasCandidate)	[CandidateSet:9656152] activated RAF1 CR2 mutants [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by p-S338,Y341,T492,S494,S621 RAF1 R256S [cytosol] (9656056)