MRPS28
Chr 8ARmitochondrial ribosomal protein S28
Also known as: COXPD47, HSPC007, MRP-S28, MRP-S35, MRPS35
The protein is a component of the mitochondrial ribosome's small 28S subunit, functioning in mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency 47, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI 0.00005, LOEUF 1.9), suggesting tolerance to haploinsufficiency.
Primary Disease Associations & Inheritance
Limited evidence — not for standalone diagnostic reporting
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
MRPS28 · 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