rs111033566
This is a variant in the PRSS1 gene that changes a asparagine to an isoleucine.
▶ClinVar annotation
Hereditary pancreatitis (PCTT); Myoepithelial tumor; PRSS1-related disorder; Trypsinogen deficiency; Vitamin D-dependent rickets type II with alopecia (VDDR2A)
View on ClinVar →▶Research that mentions this SNP (1)
▶Gene conversion cetween functional trypsinogen genesPRSS1andPRSS2associated with chronic pancreatitis in a six-year-old girlCase reportNiels Teich et al.(2005)· Human Mutation
This case report describes a gene conversion event between the functional anionic trypsinogen gene (PRSS2) and cationic trypsinogen gene (PRSS1) in a six-year-old girl with chronic pancreatitis. The 289-nucleotide conversion resulted in two amino acid substitutions: N29I and N54S. Functional studies showed the N29I mutation causes increased autocatalytic activation of trypsinogen, which likely triggers the disease; the N54S mutation has no additional deleterious effect. This is the first documented case of disease-associated gene conversion between two functional paralogous genes.
About PRSS1
This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]
View all PRSS1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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