MRPS34
Chr 16ARmitochondrial ribosomal protein S34
This protein is required for mitochondrial translation and maintains the stability of the small ribosomal subunit and 12S rRNA needed for mitoribosome formation. Mutations cause combined oxidative phosphorylation deficiency 32, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variation (pLI 0.003, LOEUF 1.72).
Moderate evidence — consider for supplementary testing
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MRPS34 · 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