LRRIQ3
Chr 1leucine rich repeats and IQ motif containing 3
Also known as: LRRC44
The LRRIQ3 protein is a leucine-rich repeat and IQ domain-containing protein that functions in ciliary motility and structure. Mutations cause primary ciliary dyskinesia, an autosomal recessive disorder characterized by chronic respiratory infections, situs inversus, and male infertility due to defective cilia and flagella function. The gene shows moderate constraint against loss-of-function variants, consistent with its role in this recessive ciliopathy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function 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
135 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 | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 81 | 11 | 0 | 93 |
Likely Benign | 1 | 6 | 2 | 3 | 12 |
Benign | 0 | 5 | 0 | 0 | 5 |
Conflicting | — | 2 | |||
| Total | 2 | 92 | 33 | 3 | 132 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRRIQ3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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