FARSB
Chr 2ARphenylalanyl-tRNA synthetase subunit beta
Also known as: FARSLB, FRSB, HSPC173, NEDBLLA, PheHB, PheRS, RILDBC, RILDBC1
The FARSB gene encodes the regulatory beta subunit of phenylalanyl-tRNA synthetase, which attaches phenylalanine to its corresponding tRNA during protein synthesis. Mutations cause Rajab interstitial lung disease with brain calcifications 1, an autosomal recessive disorder affecting the lungs and central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.558).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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
FARSB · 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