DNALI1
Chr 1ARdynein axonemal light intermediate chain 1
Also known as: P28, SPGF83, dJ423B22.5, hp28
This gene encodes a protein involved in sperm flagellum assembly and is a candidate gene for primary ciliary dyskinesia based on its homology to Chlamydomonas inner dynein arm components. Mutations cause spermatogenic failure with autosomal recessive inheritance. The gene shows minimal constraint against loss-of-function variants (very low pLI score), which is consistent with its recessive disease pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
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
DNALI1 · 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