RARS1
Chr 5ARarginyl-tRNA synthetase 1
Also known as: ArgRS, DALRD1, HLD9, RARS
Arginyl-tRNA synthetase catalyzes the aminoacylation of tRNA by arginine, a critical step in protein synthesis that links amino acids with their corresponding nucleotide triplets. Mutations in RARS1 cause hypomyelinating leukodystrophy 9, an autosomal recessive disorder. The pathogenic mechanism appears to be dominant negative, where mutant proteins interfere with normal cellular function.
Definitive — sufficient evidence for diagnostic panels
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.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RARS1 · 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