Table 2.
Selected five SPINK1 coding SNVs for further validation*
| Exon | Varianta | Illumina precomputed SpliceAI scoresb | ||||
|---|---|---|---|---|---|---|
| Nucleotide change | Amino acid change | AG | AL | DG | DL | |
| 1 | c.29G > T | p.Ser10Ile | 0.00 | 0.00 | 0.24 (23 bp) | 0.10 (−26 bp) |
| 1 | c.37G > T | p.Ala13Ser | 0.00 | 0.00 | 0.23 (31 bp) | 0.08 |
| 2 | c.64G > T | p.Gly22* | 0.00 | 0.22 (8 bp) | 0.00 | 0.11 (−23 bp) |
| 2 | c.81A > T | p.( =) | 0.00 | 0.22 (25 bp) | 0.00 | 0.13 (−6 bp) |
| 3 | c.92A > G | p.Lys31Arg | 0.13 (−1 bp) | 0.00 | 0.00 | 0.00 |
AG, acceptor gain; AL, acceptor loss; DG, donor gain; DL, donor loss; FLGSA, full-length gene splicing assay; SNVs, single-nucleotide variants
*All five variants exclusively produced normally spliced transcripts through FLGSA (see Fig. 10)
aSPINK1 mRNA reference sequence: NM_001379610.1
bInformation in parentheses indicates pre-mRNA positions associated with variants exhibiting a Δ score ≥ 0.10. Positive and negative positions reflect locations 5’ (upstream) and 3’ (downstream) relative to the variant, in accordance with the gene's sense strand orientation