SCN5A Variant I388N
Summary of observed carriers, functional annotations, and structural context for SCN5A I388N. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/10 effective observations
Estimated BrS1 penetrance
17%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 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 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.761 | 17 | 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 | – | 0 | 0 | 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 |
|---|---|---|
| 328 | 12 | |
| 333 | 13 | c.998+5G>A, c.998+1G>A, |
| 271 | 11 | L271V, |
| 1702 | 10 | |
| 276 | 15 | L276Q, L276P, |
| 387 | 5 | |
| 396 | 15 | V396A, V396L, |
| 385 | 7 | A385T, |
| 1624 | 14 | V1624I, |
| 391 | 7 | |
| 330 | 8 | S330F, |
| 388 | 0 | I388S, |
| 1698 | 10 | A1698T, |
| 334 | 15 | c.999-424_1338+81del, |
| 332 | 9 | A332T, |
| 327 | 13 | |
| 384 | 11 | S384T, |
| 329 | 9 | |
| 1692 | 13 | |
| 386 | 5 | G386R, G386R, G386E, |
| 378 | 11 | |
| 1699 | 12 | |
| 331 | 9 | |
| 267 | 14 | |
| 379 | 14 | |
| 1703 | 15 | |
| 272 | 11 | |
| 1701 | 12 | M1701I, M1701I, M1701I, |
| 392 | 10 | |
| 1697 | 13 | |
| 389 | 4 | Y389X, Y389H, |
| 1620 | 11 | T1620M, T1620K, |
| 395 | 12 | |
| 393 | 10 | |
| 390 | 6 | |
| 394 | 11 | |
| 275 | 13 | N275K, N275K, |
| 383 | 13 | |
| 382 | 8 | |
| 1619 | 15 | c.4856delC, P1619Q, P1619L, |
| 1696 | 15 | |
| 1705 | 12 | |
| 1700 | 14 | |
| 381 | 10 | c.1140+1G>A, c.1141-3C>A, |
| 1691 | 12 | |
| 380 | 15 | |
| 268 | 14 | G268S, |
| 1618 | 14 | |
| 1621 | 12 |