ASL
Chr 7ARargininosuccinate lyase
Also known as: ASAL, ASLD
The protein catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate as an essential step in the urea cycle for ammonia detoxification. Mutations cause argininosuccinic aciduria, an autosomal recessive disorder resulting from argininosuccinic acid lyase deficiency.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
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
200 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 | 1 | 1 | 3 | 0 | 5 |
Likely Pathogenic | 10 | 8 | 1 | 0 | 19 |
VUS | 0 | 17 | 4 | 1 | 22 |
Likely Benign | 0 | 0 | 72 | 68 | 140 |
Benign | 0 | 0 | 13 | 0 | 13 |
Conflicting | — | 1 | |||
| Total | 11 | 26 | 93 | 69 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ASL · 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
Pivotal 2 Study of RGX-314 Gene Therapy in Participants With nAMD
RECRUITINGDietary Intervention for Migraine Relief
NOT YET RECRUITINGDevelopment of New Methodologies and Innovative Tools for the diagnoSi and Therapeutic Treatment of uMAni Epithelial Tumors
RECRUITINGEfficacy and Safety of Vamifeport in Adult Participants With Homeostatic Iron Regulator Gene (HFE)-Related Hereditary Hemochromatosis
RECRUITINGDapagliflozin on Renal Morphology and Renal Perfusion in Patients One Year After Kidney Transplantation
RECRUITINGTrial of Low Dose Tamoxifen in Women With Breast Intraepithelial Neoplasia - Long Term Follow-up
ACTIVE NOT RECRUITINGApolipoprotein E (APOE) Genotype Effects on Triglycerides and Blood Flow in the Human Brain
RECRUITINGA Study of Clinical Outcomes in Participants With EGFR Mutated Advanced Non-Small Cell Lung Cancer (NSCLC) in a Real-World Setting
RECRUITINGDouble Blind Placebo Controlled Controlled Study of Adjuvant MEDI4736 In Completely Resected NSCLC
ACTIVE NOT RECRUITINGEffects of Wild Blueberry Consumption on Brain Function in Elderly
RECRUITINGEl Sendero: Pathways to Health Study
ENROLLING BY INVITATIONImpact of a Perioperative Physical Exercise and Respiratory Physiotherapy Program on the Patient Undergoing Bariatric Surgery
RECRUITINGExternal Resources
Links to major genomics databases and tools