NSUN3
Chr 3ARNOP2/Sun RNA methyltransferase 3
Also known as: COXPD48, MST077, MSTP077
NSUN3 encodes a mitochondrial tRNA methyltransferase that methylates cytosine at the wobble position of mitochondrial tRNA(Met), enabling recognition of both AUG and AUA codons during mitochondrial protein synthesis. Mutations cause combined oxidative phosphorylation deficiency 48, a mitochondrial disorder affecting cellular energy production. The condition follows autosomal recessive inheritance.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NSUN3 · 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