Clinical relevance of PRSS1 variants classified on the basis of functional phenotype
| Region | Nucleotide change | Amino acid change | Relevant phenotype |
|---|---|---|---|
| Pathogenic variants, strong | |||
| Exon 3 | c.298G>C | p.D100H | Severe secretion defect |
| Exon 3 | c.416G>T | p.C139F | Severe secretion defect |
| Pathogenic variants, mild | |||
| Exon 3 | c.276G>T | p.K92N | Moderate secretion defect |
| Exon 3 | c.371C>T | p.S124F | Moderate secretion defect |
| Exon 4 | c.508A>G | p.K170E | Moderate secretion increase |
| Exon 5 | c.623G>C | p.G208A | Moderate secretion defect |
| Non-pathogenic variants, functionally neutral | |||
| Exon 3 | c.292C>A | p.Q98K | None |
| Exon 3 | c.410C>T | p.T137M | None |
| Exon 4 | c.541A>G | p.S181G | None |
| Non-pathogenic variants, loss of function | |||
| Exon 2 | c.107C>G | p.P36R | Degradation by CTRC |
| Exon 3 | c.248G>A | p.G83E | Degradation by CTRC |
| Exon 3 | c.263T>A | p.I88N | Degradation by CTRC |
| Exon 3 | c.367G>A | p.V123M | Degradation by CTRC |
CTRC, chymotrypsin C.