Table 3. SCN5A gene mutations identified in BrS patients.
| cDNA variation | Protein effect | Mutation type | Location (exon, domain, segment) |
|---|---|---|---|
| c.311 G>A | p.R104Q | Missense | Exon 3, N-term |
| c.647 C>T | p.S216L | Missense | Exon 6, IS3-S4 |
| c.827 T>A | p.L276Q | Missense | Exon 7, IS5 |
| c.839 G>A | p.C280Y | Missense | Exon 7, IS5-S6 |
| c.1577 G>A | p.R526H | Missense | Exon 12, IS6-IIS1 |
| c.2374_2375insA | p.S792KfsX158 | Frameshift | Exon 15, IIS3 |
| c.2441 G>A | p.R814Q | Missense | Exon 16, IIS4 |
| c.2893C>T | p.R965C | Missense | Exon 17, IIS6-IIIS1 |
| c.2962C>T | p.R988W | Missense | Exon 17, IIS6-IIIS1 |
| c.3068 G>A | p.R1023H | Missense | Exon 17, IIS6-IIIS1 |
| c.3157 G>A | p.E1053K | Missense | Exon 17, IIS6-IIIS1 |
| c.3258-3261del4 | p.E1087PfsX57 | Frameshift | Exon 18, IIS6-IIIS1 |
| c.3352C>T | p.Q1118X | Nonsense | Exon 18, IIS6-IIIS1 |
| c.3673 G>A | p.E1225K | Missense | Exon 21, III S1-S2 |
| c.3878 T>C | p.F1293S | Missense | Exon 22, IIIS2-S3 |
| c.4282 G>T | p.A1428S | Missense | Exon 24, IIIS5-S6 |
| c.4516C>A | p.P1506T | Missense | Exon 26, IIIS6-IVS1 |
| c.5540 G>A | p.R1847H | Missense | Exon 28, C-term |
Bold indicates previously unreported variants.