USH1G
Chr 17ARUSH1 protein network component sans
Also known as: ANKS4A, SANS
The protein encoded by this gene contains ankyrin domains and a PDZ-binding motif, and functions in pre-mRNA splicing regulation and as an anchoring/scaffolding protein in cochlear hair cells that is required for normal development and maintenance of hair cell bundles. Mutations cause Usher syndrome type 1G, an autosomal recessive disorder characterized by congenital profound hearing loss and progressive vision loss due to retinitis pigmentosa. The pathogenic mechanism is predicted to be gain-of-function.
Disputed — evidence questions this relationship
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
400 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 | 24 | 1 | 13 | 0 | 38 |
Likely Pathogenic | 15 | 1 | 2 | 0 | 18 |
VUS | 0 | 171 | 35 | 3 | 209 |
Likely Benign | 0 | 3 | 25 | 83 | 111 |
Benign | 0 | 1 | 4 | 0 | 5 |
Conflicting | — | 18 | |||
| Total | 39 | 177 | 79 | 86 | 399 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
USH1G · 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