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Go!
Schema
>
EntityWithAccessionedSequence
>
Entries
p-S338,Y341,T492,S494,S621 RAF1 T260I [cytosol]
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candidateOf
[CandidateSet:R-HSA-9656152] activated RAF1 CR2 mutants [cytosol] - Homo sapiens
compartment
[Compartment:70101] cytosol
created
[InstanceEdit:9656073] Rothfels, Karen, 2019年07月27日
crossReference
[DatabaseIdentifier:11944933] Mondo:0005045
[DatabaseIdentifier:9655972] ClinGen:CA351736
dbId
9656074
disease
[Disease:6788675] hypertrophic cardiomyopathy
displayName
p-S338,Y341,T492,S494,S621 RAF1 T260I [cytosol]
endCoordinate
648
hasModifiedResidue
[ModifiedResidue:109785] O-phospho-L-serine at 621
[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
[ReplacedResidue:9656082] L-threonine 260 replaced with L-isoleucine
inDisease
true
literatureReference
[LiteratureReference:444324] Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
maxDepth
1
modified
[InstanceEdit:9656084] Rothfels, Karen, 2019年07月27日
name
p-S338,Y341,T492,S494,S621 RAF1 T260I
RAF proto-oncogene serine/threonine-protein kinase
Raf-1
C-RAF
cRaf
referenceEntity
[ReferenceGeneProduct:uniprot:P04049] UniProt:P04049 RAF1
referenceType
ReferenceGeneProduct
schemaClass
EntityWithAccessionedSequence
species
[Species:48887] Homo sapiens
stId
R-HSA-9656074
startCoordinate
1
Referrals
(hasCandidate)
[CandidateSet:R-HSA-9656152] activated RAF1 CR2 mutants [cytosol]
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