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OPN1SW mutants [photoreceptor disc membrane]
Stable Identifier
R-HSA-2470752
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
photoreceptor disc membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Diseases of the neuronal system (Homo sapiens)
Diseases associated with visual transduction (Homo sapiens)
Retinoid cycle disease events (Homo sapiens)
Defective OPN1SW causes tritanopia (Homo sapiens)
OPN1SW mutants [photoreceptor disc membrane] (Homo sapiens)
Participants
members
OPN1SW G79R [photoreceptor disc membrane]
(Homo sapiens)
OPN1SW P264S [photoreceptor disc membrane]
(Homo sapiens)
OPN1SW S214P [photoreceptor disc membrane]
(Homo sapiens)
Participates
as an input of
Defective OPN1SW causes tritanopia (Homo sapiens)
Disease
Name
Identifier
Synonyms
blue color blindness
DOID:11661
Tritan defect, Tritanopia, Tritanopia (disorder), Tritan defect (disorder)
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