Table 3 Predicted loss of protein features downstream of the splice site altered by c.4581+32A>G variant in SCN1A
Start (aa) | End (aa) | Feature | Details |
|---|---|---|---|
1523 | 1821 | Repeat | IV |
1537 | 1537 | Conflict | F ->L (in [7]; CAA46439/M91803). |
1537 | 1560 | Transmem | Helical; name = S1 of repeat IV; (by similarity). |
1572 | 1595 | Transmem | Helical; name = S2 of repeat IV; (by similarity). |
1602 | 1625 | Transmem | Helical; name = S3 of repeat IV; (by similarity). |
1636 | 1657 | Transmem | Helical; voltage sensor; name = S4 of repeat IV; (by similarity). |
1673 | 1695 | Transmem | Helical; name = S5 of repeat IV; (by similarity). |
1762 | 1786 | Transmem | Helical; name = S6 of repeat IV; (by similarity). |
1788 | 1788 | Carbohyd | N-linked (GlcNAc…) (potential). |
1915 | 1944 | Domain | IQ |