THUMPD1
Chr 16ARTHUMP domain 1 NAT10 acetyltransferase adaptor
Also known as: NEDSOA, Tan1
The protein functions as a tRNA-binding adapter that mediates tRNA acetylation by facilitating the modification of cytidine to N4-acetylcytidine. Mutations cause autosomal recessive neurodevelopmental disorder with speech delay and variable ocular anomalies. This gene is highly intolerant to loss-of-function variants, indicating its critical role in normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
94 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 | 6 | 1 | 14 | 0 | 21 |
Likely Pathogenic | 0 | 1 | 0 | 0 | 1 |
VUS | 1 | 56 | 6 | 0 | 63 |
Likely Benign | 0 | 2 | 1 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 7 | 60 | 21 | 0 | 89 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
THUMPD1 · 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