MRPL40
Chr 22mitochondrial ribosomal protein L40
Also known as: L40mt, MRP-L22, MRP-L40, NLVCF, URIM, mL40
The protein is a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins within mitochondria. Deletions involving this gene may contribute to velo-cardio-facial syndrome and DiGeorge syndrome, which are autosomal dominant disorders affecting cardiac, facial, and immune system development. The gene shows tolerance to loss-of-function variants (pLI 0.05, LOEUF 0.79), suggesting that isolated mutations in this gene alone may not be sufficient to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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
MRPL40 · 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