MRPL13
Chr 8mitochondrial ribosomal protein L13
Also known as: L13, L13A, L13mt, RPL13, RPML13, uL13m
The protein is a component of the large 39S subunit of mitochondrial ribosomes, which are responsible for protein synthesis within mitochondria. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems, typically presenting in infancy or early childhood with developmental delay, hypotonia, and metabolic dysfunction. This gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance patterns.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
105 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 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 26 | 0 | 0 | 26 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 26 | 53 | 0 | 79 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRPL13 · 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