Table 1.
Missense mutations in mature SPINK1 identified in patients with CP (CP carriers) and individuals without CP (non-CP carriers)
| Exon | Nucleotide change | Amino acid change | CP carriers reported | Non-CP carriers reported | Carrier frequency in gnomAD |
|---|---|---|---|---|---|
| Exon 3 | c.101A>G | p.N34S | 1889 (238 hm) | 402 (9 hm) | 1.8% |
| Exon 3 | c.110A>G | p.N37S | 3 | 0.04% | |
| Exon 3 | c.123G>C | p.K41N | 1 | 1 | Not reported |
| Exon 3 | c.126A>G | p.I42M | 1 | 0.006% | |
| Exon 3 | c.133C>T | p.P45S | 2 | Not reported | |
| Exon 3 | c.137T>A | p.V46D | 1 | Not reported | |
| Exon 3 | c.143G>A | p.G48E | 1 | 1 | Not reported |
| Exon 3 | c.150T>G | p.D50E | 1 | 0.0004% | |
| Exon 3 | c.160T>C | p.Y54H | 2 | Not reported | |
| Exon 3 | c.163C>T | p.P55S | 50 (1 hm) | 57 (1 hm) | 0.9% |
| Exon 3 | c.190A>G | p.N64D | 2 | Not reported | |
| Exon 3 | c.193C>T | p.R65W | 1 | 0.003% | |
| Exon 3 | c.194G>A | p.R65Q | 6 (1 hm) | 2 | 0.1% |
| Exon 4 | c.198A>C | p.K66N | 2 | 0.023% | |
| Exon 4 | c.199C>T | p.R67C | 4 | 2 | 0.003% |
| Exon 4 | c.200G>A | p.R67H | 15 | 1 | 0.32% |
| Exon 4 | c.203A>G | p.Q68R | 1 | 0.02% | |
| Exon 4 | c.206C>T | p.T69I | 1 | 0.001% | |
| Exon 4 | c.236G>T | p.C79F | 1 | Not reported |
CP, chronic pancreatitis.
Missense variants in exon 1 that affect the secretory signal peptide were excluded. The emboldened variants with preserved secretion were analyzed in this study. The number of homozygous (hm) carriers within the total number is indicated in parenthesis. Data were obtained from the pancreasgenetics.org and gnomad.broadinstitute.org Web sites on July 9, 2020.