OPN1LW

Chr XXLRX-linked

opsin 1, long wave sensitive

Also known as: CBBM, CBP, COD5, RCP, ROP

This gene encodes for a light absorbing visual pigment of the opsin gene family. The encoded protein is called red cone photopigment or long-wavelength sensitive opsin. Opsins are G-protein coupled receptors with seven transmembrane domains, an N-terminal extracellular domain, and a C-terminal cytoplasmic domain. This gene and 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 partial, protanopic colorblindness. [provided by RefSeq, Jul 2008]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Blue cone monochromacyMIM #303700
XLR
Colorblindness, protanMIM #303900
X-linked
UniProtColorblindness, partial, protan series

Clinical highlights

Gene-disease validity (ClinGen)
red color blindness · XLDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
10
Pubs (1 yr)
P/LP submissions
P/LP missense
0.26
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — OPN1LW
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.26LOEUF
pLI 0.975
Z-score 3.13
OE 0.00 (0.000.26)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.47Z-score
OE missense 0.89 (0.771.03)
126 obs / 141.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.26)
00.351.4
Missense OE?0.89 (0.771.03)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 0 / 11.4Missense obs/exp: 126 / 141.6Syn Z: -0.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

OPN1LW · 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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