Table 1.

Rare PRSS1 variants in pancreatitis.

Region	Nucleotide change	Amino acid change	Carriers reported	Clinical and genetic information	Citations
Exon 2	c.107C>G	p.P36R	2	French m and fm, ICP	[14]#
Exon 3	c.248G>A	p.G83E	1	Italian, ICP	[14]#
Exon 3	c.263T>A	p.I88N	1	18 y white fm, CP, no SPINK1 or CFTR mut	[23]
Exon 3	c.276G>T	p.K92N	1	Italian, ICP	[14]#
Exon 3	c.292C>A	p.Q98K	1	55 y French m, CP, no SPINK1, CTRC or CFTR mut	[4]*
Exon 3	c.298G>C	p.D100H	1	German m, ICP	[24]
Exon 3	c.367G>A	p.V123M	1	French fm, ICP	[14]#
Exon 3	c.371C>T	p.S124F	1	46 y German fm, ICP, no SPINK1, CTRC or CFTR mut	[25]
Exon 3	c.410C>T	p.T137M	3	13 y Asian fm, AP, no SPINK1 or CFTR mut	[23]
				Chinese, late onset ICP, no SPINK1 mut	[16]
				28 y Chinese, pancreatic cancer, also carried p.T135A PRSS1	[17]
Exon 3	c.416G>T	p.C139F	2	14 y German m, RAP, unaffected mother carrier	[15]
				8 y fm, CP with chronic pain, no SPINK1 or CFTR mut	[26]
Exon 4	c.508A>G	p.K170E	1	30 y Indian m, CP, no SPINK1, CTRC or CFTR mut	[4]*
Exon 4	c.541A>G	p.S181G	1	6 y Italian m, RAP, p.F508del CFTR, unaffected mother carrier	[27]
Exon 5	c.623G>C	p.G208A	3	12 y Asian m, pancreatitis, hm p.F508del and p.Q1352H CFTR	[23]
				Korean child, RAP, no SPINK1 mut	[18]
				7 y Korean, necrotizing AP	[18]

AP, acute pancreatitis, CP, chronic pancreatitis; ICP, idiopathic chronic pancreatitis, RAP, recurrent acute pancreatitis; m, male; fm, female; hm, homozygous, y, year, mut, mutation. Unless indicated otherwise, mutations are heterozygous. The age indicates the time of diagnosis.

^*Vinciane Rebours, personal communication.

^#Jian-Min Chen, personal communication.