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Details on Person MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA

Class:Id	FailedReaction:9022462
_displayName	MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA
_doRelease	TRUE
_timestamp	2018-08-08 18:40:32
authored	[InstanceEdit:9024208] Orlic-Milacic, Marija, 2017-10-02
compartment	[Compartment:7660] nucleoplasm
created	[InstanceEdit:9022467] Orlic-Milacic, Marija, 2017-09-22
disease	[Disease:9005548] Rett syndrome
edited	[InstanceEdit:9615799] Orlic-Milacic, Marija, 2018-08-08
entityFunctionalStatus	[EntityFunctionalStatus:9022523] loss_of_function of MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm]
input	[DefinedSet:9022522] MECP2 R133C,MECP2 D121G,MECP2 R133H,MECP2 S134F [nucleoplasm] [Homo sapiens] [GenomeEncodedEntity:9022446] 5hmC-DNA [nucleoplasm] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:9022452] MeCP2 binds to 5hmC enriched within active genes and accessible chromatin in the nervous system
modified	[InstanceEdit:9022529] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9022533] Orlic-Milacic, Marija, 2017-09-25 [InstanceEdit:9608108] Orlic-Milacic, Marija, 2018-05-09 [InstanceEdit:9608115] Orlic-Milacic, Marija, 2018-05-09 [InstanceEdit:9608122] Orlic-Milacic, Marija, 2018-05-09 [InstanceEdit:9608281] Orlic-Milacic, Marija, 2018-05-11 [InstanceEdit:9615848] Orlic-Milacic, Marija, 2018-08-08 [InstanceEdit:9615854] Orlic-Milacic, Marija, 2018-08-08 [InstanceEdit:9615857] Orlic-Milacic, Marija, 2018-08-08 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA
normalReaction	[Reaction:9022453] MECP2 binds 5hmC-DNA [Homo sapiens]
releaseDate	2018-09-12
reviewed	[InstanceEdit:9608119] Krishnaraj, Rahul, 2018-08-07 [InstanceEdit:9608114] Christodoulou, John, 2018-08-07
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9022468] R-HSA-9022462.2
summation	[Summation:9022464] MECP2 R133C mutant protein loses the ability to bind to 5hmC...
(hasEvent)	[Pathway:9022534] Loss of MECP2 binding ability to 5hmC-DNA [Homo sapiens]
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No pathways have been reviewed or authored by MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA (9022462)