TTLL10
Chr 1tubulin tyrosine ligase like 10
Also known as: TTLL5
TTLL10 encodes an inactive polyglycylase that is predicted to be involved in protein polyglycylation and localized to axonemes and microtubule cytoskeleton. Mutations cause autosomal recessive cone-rod dystrophy, primary ciliary dyskinesia, and situs inversus totalis, affecting the visual system and respiratory cilia. The gene shows moderate constraint against loss-of-function variants (LOEUF 1.132).
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
342 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 | 124 | 0 | 124 |
Likely Pathogenic | 0 | 0 | 6 | 0 | 6 |
VUS | 0 | 148 | 22 | 0 | 170 |
Likely Benign | 0 | 18 | 1 | 1 | 20 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 166 | 154 | 1 | 321 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTLL10 · 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 →External Resources
Links to major genomics databases and tools