ADPRS
Chr 1ARADP-ribosylserine hydrolase
Also known as: ADPRHL2, ARH3, CONDSIAS
The protein is an ADP-ribosylhydrolase that removes ADP-ribose modifications from proteins and degrades free poly(ADP-ribose), playing a key role in DNA damage response and protecting cells from poly(ADP-ribose)-dependent cell death. Mutations cause autosomal recessive neurodegeneration with childhood onset that is stress-induced and features variable ataxia and seizures. The gene shows low constraint to loss-of-function variants (pLI 0.0006, LOEUF 1.03).
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
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADPRS · 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