Reactome | MECP2_e2 R133H [nucleoplasm]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9022474] Orlic-Milacic, Marija, 2017-09-24
crossReference	[DatabaseIdentifier:12020964] Mondo:0010726
dbId	9022473
disease	[Disease:9005548] Rett syndrome
displayName	MECP2_e2 R133H [nucleoplasm]
endCoordinate	486
hasModifiedResidue	[ReplacedResidue:9022475] L-arginine 133 replaced with L-histidine
inDisease	true
maxDepth	1
memberOf	[CandidateSet:R-HSA-9022481] MECP2 R133H [nucleoplasm] - Homo sapiens
modified	[InstanceEdit:9022503] Orlic-Milacic, Marija, 2017-09-25
name	MECP2_e2 R133H MECP2A R133H
referenceEntity	[ReferenceIsoform:uniprot:P51608-1] UniProt:P51608-1 MECP2
referenceType	ReferenceIsoform
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9022473
startCoordinate	1

(hasMember)

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