OPN1MW
Chr XXLRX-linkedopsin 1, medium wave sensitive
Also known as: CBBM, CBD, COD5, GCP, GOP, OPN1MW1
The encoded protein is a G-protein coupled receptor that functions as the medium-wavelength sensitive opsin (green cone photopigment), absorbing light to mediate color vision in retinal cone cells. Mutations cause X-linked recessive deutanopic colorblindness and blue cone monochromacy, predominantly through loss-of-function affecting normal color perception. The gene is located in a tandem array with other opsin genes on the X chromosome where unequal recombination and gene conversion frequently occur between these sequences.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. 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.
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.
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