TMT1B

Chr 12

thiol methyltransferase 1B

Also known as: ALDI, METTL7B

NCBI Gene: 196410ENSG00000170439UniProt: Q6UX53

Enables thiol S-methyltransferase activity. Predicted to be involved in methylation. Predicted to be located in cytosol; endoplasmic reticulum membrane; and lipid droplet. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.98
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.066
Z-score 1.61
OE 0.38 (0.17–0.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.17Z-score
OE missense 1.04 (0.91–1.20)
140 obs / 134.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.38 (0.17–0.98)
0≤0.351.4
Missense OE?1.04 (0.91–1.20)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 3 / 7.9Missense obs/exp: 140 / 134.4Syn Z: -0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TMT1B · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients