SCN5A Variant E208K
Summary of observed carriers, functional annotations, and structural context for SCN5A E208K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
14%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -3.25 | 0.993 | -2.83 | 0.932 | 10 | 2 |
PROVEAN scores below -2 suggest deleterious impact. REVEL scores above 0.5–0.75 are often interpreted as likely pathogenic. PolyPhen-2 scores above 0.85 are typically pathogenic. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
| Neighbour residue | Distance (Å) | Observed variants |
|---|---|---|
| 147 | 15 | |
| 164 | 11 | F164L, |
| 209 | 6 | N209T, N209S, |
| 156 | 14 | W156R, W156X, |
| 158 | 9 | K158T, |
| 163 | 11 | c.486delC, |
| 216 | 14 | S216X, S216L, |
| 169 | 11 | |
| 222 | 10 | R222X, R222Q, R222L, |
| 213 | 14 | |
| 157 | 14 | T157I, |
| 160 | 12 | p.V160fs, |
| 205 | 6 | c.612-2A>G, Y205X, |
| 206 | 6 | |
| 166 | 10 | A166T, |
| 214 | 15 | |
| 211 | 10 | |
| 144 | 15 | |
| 217 | 13 | |
| 199 | 14 | S199T, |
| 165 | 7 | |
| 210 | 7 | I210T, |
| 204 | 6 | c.611+1G>A, c.611+3_611+4dupAA, A204V, A204T, |
| 162 | 6 | Y162H, Y162C, |
| 203 | 10 | |
| 208 | 0 | E208K, |
| 168 | 12 | |
| 202 | 10 | I202T, |
| 167 | 13 | |
| 161 | 8 | E161Q, E161K, |
| 201 | 10 | |
| 219 | 11 | R219H, R219C, c.656_657insATTCA, p.R219HfsX11, |
| 218 | 10 | |
| 159 | 13 | Y159C, Y159X, |
| 207 | 5 | |
| 212 | 10 | L212Q, L212P, |
| 215 | 15 | p.L215CfsX10, |
| 200 | 12 | |
| 220 | 15 | T220I, |