Reactome | MeCP2_e1 R318C [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

candidateOf	[CandidateSet:R-HSA-9005551] MECP2 R306C [nucleoplasm] - Homo sapiens
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9005571] Orlic-Milacic, Marija, 2017-05-09
crossReference	[DatabaseIdentifier:12020964] Mondo:0010726
dbId	9005577
disease	[Disease:9005548] Rett syndrome
displayName	MeCP2_e1 R318C [nucleoplasm]
endCoordinate	498
hasModifiedResidue	[ReplacedResidue:9005581] L-arginine 318 replaced with L-cysteine
inDisease	true
literatureReference	[LiteratureReference:9005560] A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
maxDepth	1
name	MeCP2_e1 R318C MECP2B R318C
referenceEntity	[ReferenceIsoform:uniprot:P51608-2] UniProt:P51608-2 MECP2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9005577
startCoordinate	1

(hasCandidate)

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