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Details on Person p-S338,Y341,T492,S494,S621 RAF1 V263A [cytosol]

Class:Id	EntityWithAccessionedSequence:9656080
_displayName	p-S338,Y341,T492,S494,S621 RAF1 V263A [cytosol]
_timestamp	2019-07-27 15:15:57
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9656079] Rothfels, Karen, 2019-07-27
crossReference	[DatabaseIdentifier:9655980] ClinGen:CA16602249
disease	[Disease:6802289] Noonan syndrome [Disease:6788675] hypertrophic cardiomyopathy
endCoordinate	648
hasModifiedResidue	[ModifiedResidue:109785] O-phospho-L-serine at 621 [ReplacedResidue:9655934] L-valine 263 replaced with L-alanine [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:9655488] Germline gain-of-function mutations in RAF1 cause Noonan syndrome
name	p-S338,Y341,T492,S494,S621 RAF1 V263A 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:9656081] R-HSA-9656080.1
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 V263A [cytosol] (9656080)