Reactome | IKBKG R175P [cytosol]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5262932] Shamovsky, V, 2014-02-09
crossReference	[DatabaseIdentifier:12021025] Mondo:0003778
dbId	5262916
disease	[Disease:5228860] primary immunodeficiency disease
displayName	IKBKG R175P [cytosol]
endCoordinate	419
hasModifiedResidue	[ReplacedResidue:5262934] L-arginine 175 replaced with L-proline
inDisease	true
literatureReference	[LiteratureReference:5262886] Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency
maxDepth	1
memberOf	[DefinedSet:R-HSA-5262931] TLR associated IKBKG variants [cytosol] - Homo sapiens
modified	[InstanceEdit:5655645] Shamovsky, Veronica, 2014-12-08
name	IKBKG R175P NEMO R175P IKKG R175P IKK-gamma R175P Inhibitor of nuclear factor kappa-B kinase gamma subunit
referenceEntity	[ReferenceGeneProduct:uniprot:Q9Y6K9] UniProt:Q9Y6K9 IKBKG
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-5262916
startCoordinate	1

(hasMember)

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