TATDN1
Chr 8TatD DNase domain containing 1
Also known as: CDA11
The TATDN1 protein exhibits 3'-5' DNA exonuclease and AP endonuclease activities and plays an important role in chromosomal segregation and cell cycle progression during eye development via its DNA decatenation activity. Mutations cause autosomal recessive spastic paraplegia with optic atrophy and neuropathy (SPOAN syndrome), typically presenting in infancy with progressive spastic paraparesis, congenital optic atrophy, and peripheral neuropathy. The gene shows extreme intolerance to loss-of-function variants (pLI ~1), indicating that complete protein loss is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TATDN1 · 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