MRPL10
Chr 17mitochondrial ribosomal protein L10
Also known as: L10MT, MRP-L10, MRP-L8, MRPL8, RPML8, uL10m
MRPL10 encodes a protein component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins within mitochondria. Mutations cause mitochondrial disease through a dominant-negative mechanism, where mutant proteins interfere with normal mitochondrial ribosome function. The inheritance pattern and specific clinical phenotypes have not been established from the available data.
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
58 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 33 | 3 | 0 | 36 |
Likely Benign | 0 | 1 | 0 | 2 | 3 |
Benign | 0 | 1 | 0 | 0 | 1 |
| Total | 0 | 35 | 11 | 2 | 48 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRPL10 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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