OPN1MW Chromosome X
Opsin 1, medium wave sensitive
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What This Gene Does
This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called green cone photopigment or medium-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. The long-wavelength opsin gene and multiple copies of the medium-wavelength opsin gene are tandemly arrayed on the X chromosome and frequent unequal recombination and gene conversion may occur between these sequences. X chromosomes may have fusions of the medium- and long-wavelength opsin genes or may have more than one copy of these genes. Defects in this gene are the cause of deutanopic colorblindness. [provided by RefSeq, Mar 2009]
Gene Info
Gene Group
Opsin receptors
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000268221
Associated Conditions (5)
Cone monochromatism
Deuteranomaly
Achromatopsia
Cone dystrophy 5
X-linked
Key Variants
RS104894914
Pathogenic
Cone monochromatism, Deuteranomaly, Cone monochromatism
Health Risk
RS104894915
Pathogenic
Deuteranomaly, Deuteranomaly
Health Risk
RS104894916
Pathogenic
Deuteranomaly, Deuteranomaly
Health Risk
RS2148787747
Pathogenic
Achromatopsia, Achromatopsia
Health Risk
RS267606927
Pathogenic
Cone dystrophy 5, X-linked, Cone dystrophy 5
Health Risk
RS724159983
Pathogenic
Deuteranomaly, Deuteranomaly
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894914 | Health Risk | Pathogenic | Cone monochromatism, Deuteranomaly, Cone monochromatism |
| RS104894915 | Health Risk | Pathogenic | Deuteranomaly, Deuteranomaly |
| RS104894916 | Health Risk | Pathogenic | Deuteranomaly, Deuteranomaly |
| RS2148787747 | Health Risk | Pathogenic | Achromatopsia, Achromatopsia |
| RS267606927 | Health Risk | Pathogenic | Cone dystrophy 5, X-linked, Cone dystrophy 5 |
| RS724159983 | Health Risk | Pathogenic | Deuteranomaly, Deuteranomaly |