Functional effects of 13 rare<i>PRSS1</i>variants presumed to cause chronic pancreatitis

Abstract

Rare PRSS1 variants found in sporadic chronic pancreatitis do not stimulate autoactivation but may cause increased degradation, impaired secretion or no functional change. Variants with reduced secretion are likely pathogenic due to mutation-induced misfolding and consequent endoplasmic reticulum stress.