ESPN
Chr 1ARADespin
Also known as: DFNA91, DFNB36, LP2654, USH1M
This protein is a multifunctional actin-bundling protein that regulates the organization and dynamics of stereocilia in inner ear hair cells, which are essential for hearing and balance. Mutations cause autosomal recessive deafness (DFNB36), autosomal dominant deafness (DFNA91), and possibly Usher syndrome type 1M, which combines congenital deafness with progressive vision loss. The gene shows very low constraint against loss-of-function variants, and both recessive and dominant inheritance patterns are observed depending on the specific mutation.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
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.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ESPN · 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