Table 3.
Splicing in silico analysis of the variants detected in the ABCC8 gene.
| cDNA and protein position | ada.Pred | rf.Pred | NetGene2 | NNSPLICE | HSF | Minigene assay |
|---|---|---|---|---|---|---|
| c.211C > T p.(His71Tyr) | – | – | Neutral | Neutral | Activation of an exonic cryptic donor site. Alteration of an exonic ESE site. Potential alteration of splicing | Neutral |
| c.298G > A p.(Glu100Lys) | – | – | Neutral | Neutral | Alteration of an exonic ESE site. Potential alteration of splicing | Neutral |
| c.1429G > A p.(Val477Met) | – | – | Neutral | Splice site score reduced | Creation of an exonic ESS site. Alteration of an exonic ESE site. Potential alteration of splicing | Neutral |
| c.1643C > T p.(Thr548Met) | – | – | Neutral | Neutral | Neutral | N.A |
| c.2176G > A p.(Ala726Thr) | – | – | Neutral | Neutral | Neutral | – |
| c.2422C > A p.(Gln808Lys) | – | – | Creation of a novel splicing acceptor site | Creation of a novel splice site | Creation of an exonic ESS site. Alteration of an exonic ESE site. Potential alteration of splicing | N.A |
| c.2694 + 1G > A | Possibly damaging splicing site | s > 0.612 | Possibly damaging splicing site | s > 0.598 | Donor site affected (0.0 confidence) | Neutral | Creation of an exonic ESS site. Potential alteration of splicing | N.A |
| c.3238G > A p.(Val1080Ile) | – | – | Acceptor splice sites scores increase | Neutral | Neutral | – |
| c.3288_3289del p.(His1097ProfsTer16) | – | – | Creation of a novel splicing acceptor site. Splice acceptor site score increases | Neutral | Creation of an exonic ESS site. Alteration of an exonic ESE site. Potential alteration of splicing | N.A |
| c.3394G > A p.(Asp1132Asn) | – | – | Neutral | Splice site score reduced | Alteration of an exonic ESE site. Potential alteration of splicing | Exon skipping |
| c.3976G > A p.(Glu1326Lys) | – | – | Creation of a novel splicing acceptor site | Neutral | Creation of an exonic ESS site. Potential alteration of splicing | N.A |