SCN5A Variant I391N
Summary of observed carriers, functional annotations, and structural context for SCN5A I391N. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
12%
0/10 effective observations
Estimated BrS1 penetrance
25%
2/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 2 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 | 0.944 | 30 | 12 |
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 | 13 | 0 | 2 | – | – |
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 |
|---|---|---|
| 271 | 11 | L271V, |
| 1702 | 11 | |
| 387 | 10 | |
| 396 | 10 | V396A, V396L, |
| 385 | 12 | A385T, |
| 1624 | 12 | V1624I, |
| 391 | 0 | |
| 330 | 15 | S330F, |
| 388 | 7 | I388S, |
| 1698 | 13 | A1698T, |
| 365 | 15 | |
| 1704 | 15 | L1704H, |
| 1706 | 14 | Q1706H, Q1706H, |
| 1668 | 14 | M1668T, |
| 386 | 10 | G386R, G386R, G386E, |
| 378 | 11 | |
| 1699 | 15 | |
| 331 | 15 | |
| 402 | 15 | F402L, F402L, F402L, |
| 1665 | 13 | |
| 267 | 11 | |
| 1625 | 15 | |
| 399 | 11 | |
| 272 | 12 | |
| 397 | 11 | I397F, I397V, I397T, |
| 1628 | 15 | |
| 1701 | 12 | M1701I, M1701I, M1701I, |
| 392 | 6 | |
| 1697 | 15 | |
| 389 | 7 | Y389H, Y389X, |
| 1620 | 12 | T1620M, T1620K, |
| 395 | 6 | |
| 393 | 7 | |
| 390 | 5 | |
| 394 | 5 | |
| 264 | 11 | |
| 382 | 11 | |
| 374 | 14 | W374G, |
| 1705 | 10 | |
| 263 | 15 | V263I, |
| 1661 | 14 | G1661R, G1661R, G1661E, |
| 381 | 12 | c.1141-3C>A, c.1140+1G>A, |
| 368 | 13 | |
| 268 | 13 | G268S, |
| 377 | 15 | |
| 398 | 11 | |
| 400 | 14 | G400E, G400R, G400R, G400A, |
| 1621 | 12 | |
| 1664 | 14 | |
| 1658 | 15 |