TTC19
Chr 17ARtetratricopeptide repeat domain 19
Also known as: 2010204O13Rik, MC3DN2
The protein is embedded in the inner mitochondrial membrane and is involved in the formation of mitochondrial respiratory chain complex III. Mutations cause mitochondrial complex III deficiency, nuclear type 2, inherited in an autosomal recessive pattern. The pathogenic mechanism is predicted to be gain of function.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
456 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 | 14 | 0 | 28 | 0 | 42 |
Likely Pathogenic | 11 | 1 | 0 | 0 | 12 |
VUS | 6 | 115 | 83 | 4 | 208 |
Likely Benign | 0 | 8 | 64 | 44 | 116 |
Benign | 1 | 0 | 35 | 2 | 38 |
Conflicting | — | 24 | |||
| Total | 32 | 124 | 210 | 50 | 440 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
TTC19 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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