OPN1MW

Chr XXLRX-linked

opsin 1, medium wave sensitive

Also known as: CBBM, CBD, COD5, GCP, GOP, OPN1MW1

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]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Blue cone monochromacyMIM #303700
XLR
Colorblindness, deutanMIM #303800
X-linked
UniProtColorblindness, partial, deutan series
UniProtCone dystrophy 5

Clinical highlights

Gene-disease validity (ClinGen)
red-green color blindness · XLDefinitivesufficient evidence for diagnostic panels
0
Active trials
12
Pubs (1 yr)
P/LP submissions
P/LP missense
1.78
LOEUF
Multiple*
Mechanism· predicted
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GeneReview available — OPN1MW
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.78LOEUF
pLI 0.038
Z-score 0.42
OE 0.73 (0.291.78)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.75Z-score
OE missense 0.69 (0.520.93)
32 obs / 46.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.73 (0.291.78)
00.351.4
Missense OE?0.69 (0.520.93)
00.61.4
Synonymous OE?1.65
01.21.6
LoF obs/exp: 2 / 2.7Missense obs/exp: 32 / 46.3Syn Z: -2.35

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OPN1MW · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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