RPUSD3
Chr 3RNA pseudouridine synthase D3
This gene encodes a pseudouridine synthase that catalyzes pseudouridylation of specific mitochondrial mRNAs and participates in mitochondrial ribosome biogenesis by modifying 16S rRNA. Mutations cause mitochondrial disorders with defects in mitochondrial protein synthesis, typically presenting in early childhood with multisystem involvement including neurological, cardiac, and metabolic features. The gene shows minimal constraint against loss-of-function variants (pLI near 0), and inheritance pattern varies depending on the specific mitochondrial disorder but typically follows autosomal recessive inheritance.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
144 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 | 44 | 0 | 44 |
Likely Pathogenic | 0 | 2 | 3 | 0 | 5 |
VUS | 1 | 53 | 18 | 0 | 72 |
Likely Benign | 0 | 3 | 1 | 1 | 5 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 1 | 58 | 66 | 1 | 126 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
RPUSD3 · 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 →No open access results found
External Resources
Links to major genomics databases and tools