OR1Q1
Chr 9olfactory receptor family 1 subfamily Q member 1
Also known as: HSTPCR106, OR1Q2, OR1Q3, OR9-25, OR9-A, OST226, OST226OR9-A, TPCR106
The OR1Q1 protein is an olfactory receptor that binds odorant molecules and initiates G protein-coupled signaling to trigger smell perception. No Mendelian diseases have been definitively associated with OR1Q1 mutations in OMIM or ClinVar databases. This gene shows very low constraint against loss-of-function variants, consistent with most olfactory receptor genes that have redundant functions in odor detection.
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
OR1Q1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools