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Details on Person Defective OPN1MW does not bind 11cRAL

Class:Id	FailedReaction:2466706
_displayName	Defective OPN1MW does not bind 11cRAL
_doRelease	TRUE
_timestamp	2024-08-21 16:20:26
authored	[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
compartment	[Compartment:70101] cytosol [Compartment:74000] photoreceptor outer segment membrane
created	[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
disease	[Disease:2477157] retinal disease
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]
input	[SimpleEntity:32737] 11cRAL [cytosol] [DefinedSet:9918435] OPN1MW LOF variants [photoreceptor disc membrane] [Homo sapiens]
isChimeric	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
modified	[InstanceEdit:2470272] Jassal, Bijay, 2012-09-18 [InstanceEdit:2470730] Jassal, B, 2012-09-19 [InstanceEdit:2471674] Jassal, Bijay, 2012-09-21 [InstanceEdit:2473461] Jassal, Bijay, 2012-09-24 [InstanceEdit:2586676] Jassal, B, 2012-11-16 [InstanceEdit:3006583] Jassal, Bijay, 2013-01-31 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:9036271] Jassal, Bijay, 2018-01-31 [InstanceEdit:9036275] Jassal, Bijay, 2018-01-31 [InstanceEdit:9036719] Jassal, Bijay, 2018-02-07 [InstanceEdit:9036723] Jassal, Bijay, 2018-02-07 [InstanceEdit:9656892] Jassal, Bijay, 2019-08-06 [InstanceEdit:9658488] Jassal, Bijay, 2019-08-15 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08 [InstanceEdit:9918468] Orlic-Milacic, Marija, 2024-08-15 [InstanceEdit:9919313] Matthews, Lisa, 2024-08-21
name	Defective OPN1MW does not bind 11cRAL
normalReaction	[Reaction:9656893] OPN1MW binds 11cRAL [Homo sapiens]
previousReviewStatus	[ReviewStatus:9821384] two stars
releaseDate	2013-03-12
reviewed	[InstanceEdit:3006584] Blaner, William S, 2013-01-31 [InstanceEdit:9919312] Matthews, Lisa, 2024-08-21
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:3200337] R-HSA-2466706.5
structureModified	[InstanceEdit:9918468] Orlic-Milacic, Marija, 2024-08-15
summation	[Summation:2470748] Normal human colour vision is trichromatic, based on 3 types...
(hasEvent)	[Pathway:9918436] Defective visual phototransduction due to OPN1MW loss of function [Homo sapiens]
(replacementInstances)	[_Deleted:9919294] Deletion of instance: 2471641
(updatedInstance)	[_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] [_UpdateTracker:9919387] Update Tracker - [FailedReaction:2466706] Defective OPN1MW does not bind 11cRAL - v90:[add_removeInput, modifyText, removeLiteratureReference]
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