Gene: OPN1SW

Alternate names for this Gene: BCP|BOP|CBT

Gene Summary: This gene belongs to the G-protein coupled receptor 1 family, opsin subfamily. It encodes the blue cone pigment gene which is one of three types of cone photoreceptors responsible for normal color vision. Defects in this gene are the cause of tritan color blindness (tritanopia). Affected individuals lack blue and yellow sensory mechanisms while retaining those for red and green. Defective blue vision is characteristic.

Gene is located in Chromosome: 7

Location in Chromosome : 7q32.1

Description of this Gene: opsin 1, short wave sensitive

Type of Gene: protein-coding

rs55985730 in OPN1SW gene and Atrial Fibrillation PMID 30061737 2018 Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.

PMID 29892015 2018 Multi-ethnic genome-wide association study for atrial fibrillation.

rs104894031 in OPN1SW gene and Color Blindness, Blue PMID 1531728 1992 Human tritanopia associated with two amino acid substitutions in the blue-sensitive opsin.

PMID 23022137 2012 Substitution of isoleucine for threonine at position 190 of S-opsin causes S-cone-function abnormalities.

PMID 1386496 1992 Human tritanopia associated with a third amino acid substitution in the blue-sensitive visual pigment.