PUS3
Chr 11ARpseudouridine synthase 3
Also known as: 2610020J05Rik, DEG1, FKSG32, MRT55, NEDMIGS
This gene encodes pseudouridine synthase 3, which catalyzes the formation of pseudouridine at position 39 in the anticodon stem and loop of transfer RNAs. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with microcephaly and gray sclerae. The gene shows high constraint against loss-of-function variants (LOEUF 1.115), indicating intolerance to haploinsufficiency in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
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
PUS3 · 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