SCN5A Variant L1387F
Summary of observed carriers, functional annotations, and structural context for SCN5A L1387F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
8%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.41 | 0.004 | -1.34 | 0.382 | 4 | 0 |
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 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 1434 | 14 | c.4299G>A, c.4299_4300insG, c.4299delG, c.4299+28C>T, c.4299+1G>T, c.4299+1delG, c.4300-2A>T, c.4299+2T>A, c.4300-1G>A, Y1434X, |
| 1443 | 15 | N1443S, |
| 1391 | 11 | G1391R, G1391R, |
| 1441 | 14 | E1441Q, |
| 1381 | 9 | |
| 1396 | 14 | |
| 1362 | 11 | R1362S, R1362S, c.4083delG, |
| 1433 | 10 | G1433R, G1433W, G1433V, G1433R, |
| 1438 | 8 | P1438L, |
| 1435 | 10 | |
| 1379 | 14 | |
| 1386 | 4 | |
| 1388 | 5 | |
| 1430 | 12 | D1430N, |
| 1393 | 15 | L1393X, |
| 1387 | 0 | L1387F, L1387F, |
| 1437 | 5 | |
| 1361 | 11 | |
| 1384 | 5 | C1384Y, |
| 1440 | 15 | W1440X, |
| 1431 | 12 | S1431C, |
| 1382 | 8 | S1382I, |
| 1395 | 10 | |
| 1390 | 8 | |
| 1363 | 9 | C1363Y, |
| 1365 | 14 | N1365S, |
| 1385 | 7 | |
| 1380 | 11 | p.N1380del, N1380K, N1380K, |
| 1383 | 6 | Q1383X, |
| 1432 | 8 | R1432S, R1432G, R1432S, |
| 1389 | 9 | |
| 1439 | 8 | Q1439H, Q1439H, Q1439R, |
| 1442 | 11 | Y1442C, Y1442N, |
| 1392 | 15 | |
| 1436 | 6 | |
| 1364 | 13 | I1364V, |
| 1359 | 14 | K1359N, K1359M, K1359N, |