MRPS15
Chr 1mitochondrial ribosomal protein S15
Also known as: DC37, MPR-S15, RPMS15, S15mt, uS15m
This protein is a component of the mitochondrial ribosome's small 28S subunit and functions in mitochondrial protein synthesis by binding to 12S rRNA. Mutations cause autosomal recessive mitochondrial respiratory chain deficiency, typically presenting in infancy with growth retardation, developmental delay, and multi-organ involvement including neurological and cardiac manifestations. The gene is highly intolerant to loss-of-function mutations, indicating critical importance for cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
80 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 | 6 | 0 | 6 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 46 | 3 | 0 | 49 |
Likely Benign | 0 | 4 | 0 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 50 | 11 | 1 | 62 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MRPS15 · 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