QNG1
Chr 9Q-nucleotide N-glycosylase 1
Also known as: C9orf64
This enzyme catalyzes the hydrolysis of queuosine 5'-phosphate to release queuine, which is required for the salvage pathway that incorporates queuine into transfer RNA. Mutations cause an autosomal recessive neurological disorder characterized by developmental delay, intellectual disability, and seizures with onset in infancy or early childhood. The gene shows extreme intolerance to loss-of-function variants, indicating that complete loss of enzyme function is likely pathogenic.
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
QNG1 · 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