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Schema
>
FailedReaction
>
Entries
Defective OPN1MW does not bind 11cRAL
Show undefined attributes
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authored
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
category
transition
compartment
[Compartment:70101] cytosol
[Compartment:74000] photoreceptor outer segment membrane
created
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
crossReference
[DatabaseIdentifier:12020952] Mondo:0005283
dbId
2466706
deleted
[Deleted:9919294] Deletion of instance: 2471641
disease
[Disease:2477157] retinal disease
displayName
Defective OPN1MW does not bind 11cRAL
edited
[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
[InstanceEdit:9918451] Orlic-Milacic, Marija, 2024-08-15
entityFunctionalStatus
[EntityFunctionalStatus:2470744] loss_of_function of OPN1MW LOF variants [photoreceptor disc membrane]
eventOf
[Pathway:R-HSA-9918436] Defective visual phototransduction due to OPN1MW loss of function - Homo sapiens
input
[SimpleEntity:R-ALL-32737] 11cRAL [cytosol]
[DefinedSet:R-HSA-9918435] OPN1MW LOF variants [photoreceptor disc membrane]
isChimeric
false
isInDisease
true
isInferred
false
literatureReference
[LiteratureReference:2471759] The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
[LiteratureReference:420860] Defective colour vision associated with a missense mutation in the human green visual pigment gene
[LiteratureReference:2471709] Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
[LiteratureReference:2471734] Molecular genetics of human blue cone monochromacy
[LiteratureReference:2471710] Genetic heterogeneity among blue-cone monochromats
[LiteratureReference:2471677] Gene conversion between red and defective green opsin gene in blue cone monochromacy
[LiteratureReference:2471633] X-linked cone dystrophy caused by mutation of the red and green cone opsins
maxDepth
1
modified
[InstanceEdit:9919313] Matthews, Lisa, 2024-08-21
name
Defective OPN1MW does not bind 11cRAL
normalReaction
[Reaction:R-HSA-9656893] OPN1MW binds 11cRAL
previousReviewStatus
[ReviewStatus:9821384] two stars
releaseDate
2013-03-12
reviewStatus
[ReviewStatus:9821382] five stars
reviewed
[InstanceEdit:3006584] Blaner, William S, 2013-01-31
[InstanceEdit:9919312] Matthews, Lisa, 2024-08-21
schemaClass
FailedReaction
species
[Species:48887] Homo sapiens
stId
R-HSA-2466706
summation
[Summation:2470748] Normal human colour vision is trichromatic, based on 3 types...
updateTrackers
[UpdateTracker:9919387] Update Tracker - [FailedReaction:2466706] Defective OPN1MW does not bind 11cRAL - v90:[add_removeInput, modifyText, removeLiteratureReference]
[UpdateTracker:9777656] Update Tracker - [FailedReaction:2466706] Defective OPN1MW causes DCB and BCM - v70:[removeInput]
[UpdateTracker:9779983] Update Tracker - [FailedReaction:2466706] Defective OPN1MW causes DCB and BCM - v64:[add_removeInput]
Referrals
(updatedInstance)
[UpdateTracker:9919387] Update Tracker - [FailedReaction:2466706] Defective OPN1MW does not bind 11cRAL - v90:[add_removeInput, modifyText, removeLiteratureReference]
[UpdateTracker:9777656] Update Tracker - [FailedReaction:2466706] Defective OPN1MW causes DCB and BCM - v70:[removeInput]
[UpdateTracker:9779983] Update Tracker - [FailedReaction:2466706] Defective OPN1MW causes DCB and BCM - v64:[add_removeInput]
(replacementInstances)
[Deleted:9919294] Deletion of instance: 2471641
(hasEvent)
[Pathway:R-HSA-9918436] Defective visual phototransduction due to OPN1MW loss of function
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