Reactome Pathway Database

Schema > EntityFunctionalStatus > Entries

loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm] Show undefined attributes

created [InstanceEdit:9022524] Orlic-Milacic, Marija, 2017年09月25日

dbId 9022526

diseaseEntity [DefinedSet:R-HSA-9022525] MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm]

displayName loss_of_function of MECP2 R106W, MECP2 D121G,MECP2 R133H,MECP2S134F,MECP2 T158M/A [nucleoplasm]

functionalStatus

[FunctionalStatus:2317386] loss_of_function via missense_variant

modified [InstanceEdit:9631717] Wu, G, 2018年12月12日

normalEntity [CandidateSet:R-HSA-9005549] MECP2 [nucleoplasm]

schemaClass EntityFunctionalStatus

Referrals

(entityFunctionalStatus)

[FailedReaction:R-HSA-9022465] MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA

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