TSR1
Chr 17TSR1 ribosome maturation factor
The TSR1 protein is required for maturation of the 40S ribosomal subunit in the nucleolus through RNA binding and processing of ribosomal RNA transcripts. Mutations cause autosomal recessive intellectual disability with congenital malformations and dysmorphic facies, typically presenting in early infancy with developmental delays and distinctive facial features. This gene is highly intolerant to loss-of-function variants, reflecting its essential role in ribosome biogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
267 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 | 55 | 0 | 55 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 156 | 15 | 0 | 172 |
Likely Benign | 0 | 6 | 2 | 0 | 8 |
Benign | 0 | 2 | 2 | 1 | 5 |
| Total | 1 | 164 | 77 | 1 | 243 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSR1 · 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