TSEN34
Chr 19ARtRNA splicing endonuclease subunit 34
Also known as: LENG5, PCH2C, SEN34, SEN34L
The protein functions as a catalytic subunit of the tRNA splicing endonuclease complex, which removes introns from precursor tRNAs and is involved in pre-mRNA 3-prime end processing. Mutations cause pontocerebellar hypoplasia type 2C, inherited in an autosomal recessive pattern. The pathogenic mechanism involves disruption of tRNA processing, which impairs protein synthesis and leads to the characteristic pontocerebellar developmental abnormalities.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
ClinVar Variant Classifications
237 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 | 1 | 15 | 0 | 16 |
Likely Pathogenic | 1 | 0 | 0 | 0 | 1 |
VUS | 2 | 81 | 25 | 9 | 117 |
Likely Benign | 0 | 4 | 25 | 24 | 53 |
Benign | 0 | 2 | 27 | 2 | 31 |
Conflicting | — | 9 | |||
| Total | 3 | 88 | 92 | 35 | 227 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TSEN34 · 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