Reactome | NF1 K1444E [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:6802411] Rothfels, Karen, 2015-10-02
crossReference	[DatabaseIdentifier:12020789] Mondo:0021061
dbId	6802414
disease	[Disease:6802412] neurofibromatosis
displayName	NF1 K1444E [cytosol]
endCoordinate	2839
hasModifiedResidue	[ReplacedResidue:6802413] L-lysine 1444 replaced with L-glutamic acid
inDisease	true
literatureReference	[LiteratureReference:6802047] Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene [LiteratureReference:6802120] Somatic mutations in the neurofibromatosis 1 gene in human tumors [LiteratureReference:6802063] NF1 mutations in neurofibromatosis 1 patients with plexiform neurofibromas [LiteratureReference:6802050] NF1 gene analysis based on DHPLC
maxDepth	1
memberOf	[CandidateSet:R-HSA-6802562] NF1 GTPase mutants [cytosol] - Homo sapiens
modified	[InstanceEdit:8879177] Wu, G, 2016-07-15
name	NF1 K1444E
referenceEntity	[ReferenceGeneProduct:uniprot:P21359] UniProt:P21359 NF1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-6802414
startCoordinate	2

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