MRPS35
Chr 12mitochondrial ribosomal protein S35
Also known as: HDCMD11P, MDS023, MRP-S28, MRPS28, mS35
The protein is a component of the mitochondrial ribosome's small 28S subunit and functions in mitochondrial protein synthesis. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems. This gene is highly constrained against loss-of-function variation, indicating that such mutations are likely pathogenic.
Primary Disease Associations & Inheritance
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
MRPS35 · 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