FARS2
Chr 6ARphenylalanyl-tRNA synthetase 2, mitochondrial
Also known as: COXPD14, FARS1, HSPC320, PheRS, SPG77, mtPheRS
The protein charges mitochondrial tRNA with phenylalanine, which is essential for mitochondrial protein synthesis. Autosomal recessive mutations cause combined oxidative phosphorylation deficiency 14 (Alpers encephalopathy) and spastic paraplegia 77 through impaired mitochondrial translation. The pathogenic mechanism involves defective aminoacylation of mitochondrial tRNA(Phe), leading to respiratory chain dysfunction.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
FARS2 · 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