TRMT44

Chr 4

tRNA methyltransferase 44 homolog

Also known as: C4orf23, METTL19, TRM44

The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.36
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.36LOEUF
pLI 0.000
Z-score -0.08
OE 1.01 (0.771.36)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.85Z-score
OE missense 1.12 (1.041.21)
454 obs / 405.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.01 (0.771.36)
00.351.4
Missense OE?1.12 (1.041.21)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 33 / 32.5Missense obs/exp: 454 / 405.6Syn Z: -0.14

ClinVar Variant Classifications

0 submitted variants 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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →