PRSS3
Chr 9serine protease 3
Also known as: MTG, PRSS4, T9, TRY3, TRY4
This gene encodes a trypsinogen, a digestive serine protease that cleaves proteins preferentially after arginine residues and has activity against Kunitz-type trypsin inhibitors. Mutations cause hereditary pancreatitis with autosomal dominant inheritance, typically presenting with recurrent episodes of abdominal pain beginning in childhood or adolescence. The gene is not highly constrained against loss-of-function variants, consistent with pancreatitis being the primary manifestation rather than a severe multisystem disorder.
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
PRSS3 · 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