OPN1LW
Chr XXLRX-linkedopsin 1, long wave sensitive
Also known as: CBBM, CBP, COD5, RCP, ROP
The protein is a red cone photopigment that functions as a G-protein coupled receptor to absorb long-wavelength light and mediate color vision. Mutations cause X-linked recessive blue cone monochromacy and protan colorblindness through loss of red cone function. The gene shows high constraint against loss-of-function variants, consistent with haploinsufficiency being the primary disease mechanism.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (loss-of-function and gain-of-function). The Badonyi & Marsh model scores gain-of-function highest among its predictions, but genomic evidence (constraint, ClinVar variant spectrum, and literature) most strongly supports loss-of-function (haploinsufficiency). Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
240 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 4 | 3 | 168 | 0 | 175 |
Likely Pathogenic | 2 | 0 | 4 | 0 | 6 |
VUS | 0 | 27 | 18 | 0 | 45 |
Likely Benign | 0 | 4 | 1 | 2 | 7 |
Benign | 0 | 2 | 1 | 1 | 4 |
Conflicting | — | 1 | |||
| Total | 6 | 36 | 192 | 3 | 238 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View 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.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools