YARS1
Chr 1ADARtyrosyl-tRNA synthetase 1
Also known as: CMTDIC, IMNEPD2, TYRRS, YARS, YRS, YTS
The protein catalyzes the aminoacylation of tRNA with tyrosine and also functions as a cytokine when cleaved into N-terminal and C-terminal fragments. Mutations cause autosomal dominant Charcot-Marie-Tooth disease intermediate type C and autosomal recessive infantile-onset multisystem neurologic, endocrine, and pancreatic disease. The pathogenic mechanism likely involves disruption of protein synthesis through impaired tRNA charging and potential loss of cytokine signaling functions.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
YARS1 · 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