TPSAB1
Chr 16tryptase alpha/beta 1
Also known as: TPS1, TPS2, TPSB1, TPSB2, Tryptase-2
Tryptase is the major neutral serine protease present in mast cells that is secreted upon mast cell activation and degranulation, playing a role in innate immunity and allergic responses. Mutations in TPSAB1 cause hereditary alpha-tryptasemia, an autosomal dominant disorder characterized by elevated baseline serum tryptase levels and symptoms including flushing, pruritus, gastrointestinal dysfunction, and connective tissue abnormalities. The gene shows very low constraint against loss-of-function variants, suggesting that complete loss of function may be tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
TPSAB1 · 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