TRMT44
Chr 4tRNA methyltransferase 44 homolog
Also known as: C4orf23, METTL19, TRM44
This gene encodes a tRNA methyltransferase that modifies uracil bases in tRNA using S-adenosyl-L-methionine as a methyl donor. Mutations may cause partial epilepsy with pericentral spikes, though this association has not been definitively established. The gene shows minimal constraint against loss-of-function variants, suggesting tolerance to such mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
272 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 | 72 | 0 | 72 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 144 | 16 | 0 | 160 |
Likely Benign | 0 | 11 | 2 | 1 | 14 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 155 | 93 | 1 | 249 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TRMT44 · 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 →No open access results found
External Resources
Links to major genomics databases and tools