TTLL1

Chr 22

TTL family tubulin polyglutamylase complex subunit L1

Also known as: C22orf7, HS323M22B, TPGS3

NCBI Gene: 25809ENSG00000100271UniProt: O95922

Enables tubulin-glutamic acid ligase activity. Involved in microtubule cytoskeleton organization. Is active in microtubule. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
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?
0.87LOEUF
pLI 0.000
Z-score 2.03
OE 0.54 (0.34–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.46Z-score
OE missense 0.74 (0.66–0.84)
194 obs / 260.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.34–0.87)
0≤0.351.4
Missense OE?0.74 (0.66–0.84)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 12 / 22.3Missense obs/exp: 194 / 260.5Syn Z: -0.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TTLL1 · 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