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Details on Person p-S621-RAF1 D486N [cytosol]

Class:Id	EntityWithAccessionedSequence:9656088
_displayName	p-S621-RAF1 D486N [cytosol]
_timestamp	2019-07-27 15:18:14
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9656089] Rothfels, Karen, 2019-07-27
crossReference	[DatabaseIdentifier:9655989] ClinGen:CA341928
disease	[Disease:6802289] Noonan syndrome
endCoordinate	648
hasModifiedResidue	[ModifiedResidue:109785] O-phospho-L-serine at 621 [ReplacedResidue:9655898] L-aspartic acid 486 replaced with L-asparagine
literatureReference	[LiteratureReference:444324] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy [LiteratureReference:9655889] Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants
name	p-S621-RAF1 D486N 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:9656090] R-HSA-9656088.1
startCoordinate	1
(hasMember)	[CandidateSet:9656161] p-S621 RAF1 CR3 mutants [cytosol] [Homo sapiens]
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No pathways have been reviewed or authored by p-S621-RAF1 D486N [cytosol] (9656088)