AARS1
Chr 16ADARalanyl-tRNA synthetase 1
Alanyl-tRNA synthetase catalyzes the attachment of alanine to tRNA(Ala) and edits incorrectly charged tRNA molecules, playing an essential role in protein synthesis. Mutations cause autosomal dominant or recessive disorders including Charcot-Marie-Tooth disease type 2N, developmental and epileptic encephalopathy with early onset, leukoencephalopathy with spheroids, and nonphotosensitive trichothiodystrophy. This gene is highly constrained against loss-of-function variants (LOEUF 0.617), reflecting its critical cellular function.
Definitive — sufficient evidence for diagnostic panels
3 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
AARS1 · 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