AHI1
Chr 6ARAbelson helper integration site 1
Also known as: AHI-1, JBTS3, ORF1, dJ71N10.1
The AHI1 protein is involved in vesicle trafficking and required for ciliogenesis, formation of primary cilia, and recruitment of RAB8A to the basal body, functioning as part of the tectonic-like complex at the ciliary transition zone. Mutations cause Joubert syndrome 3, a recessively inherited developmental brain disorder affecting cerebellar and cortical development. This gene follows autosomal recessive inheritance and is extremely intolerant to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
100 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 | 8 | 1 | 0 | 0 | 9 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 0 | 47 | 2 | 1 | 50 |
Likely Benign | 0 | 0 | 20 | 17 | 37 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 11 | 48 | 22 | 18 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
AHI1 · 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
External Resources
Links to major genomics databases and tools