ADSS2
Chr 1adenylosuccinate synthase 2
The protein is adenylosuccinate synthetase, which catalyzes the first committed step in converting inosine monophosphate to adenosine monophosphate in purine nucleotide biosynthesis. Mutations cause autosomal recessive adenylosuccinase deficiency, a disorder affecting the nervous system with developmental delay, intellectual disability, seizures, and autism spectrum features. The gene is moderately constrained against loss-of-function variants (LOEUF 0.454), reflecting the importance of purine metabolism for cellular function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
ADSS2 · 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