SCN5A Variant F1360C
Summary of observed carriers, functional annotations, and structural context for SCN5A F1360C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/11 effective observations
Estimated BrS1 penetrance
52%
5/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 4 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -7.33 | 1 | -4.88 | 0.948 | 68 | 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 |
|---|---|---|---|---|---|---|---|
| 26921764 | 2016 | 1 | 0 | 1 | 0 | ||
| 20129283 | 2010 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| Variant features alone | – | 15 | 11 | 0 | 4 | – | – |
Totals may differ from individual publications due to duplicate patients removed during curation.
Functional data
Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.
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 |
|---|---|---|
| 1355 | 10 | |
| 1403 | 8 | |
| 1357 | 8 | A1357V, |
| 1430 | 8 | D1430N, |
| 1352 | 11 | |
| 1426 | 10 | |
| 1406 | 14 | G1406R, G1406R, G1406E, |
| 1361 | 6 | |
| 1440 | 14 | W1440X, |
| 739 | 11 | |
| 1395 | 11 | |
| 1397 | 7 | c.4189delT, c.4190delA, |
| 1449 | 13 | Y1449S, Y1449C, |
| 1380 | 13 | p.N1380del, N1380K, N1380K, |
| 1429 | 9 | |
| 1442 | 15 | Y1442N, Y1442C, |
| 1723 | 13 | T1723N |
| 1450 | 12 | |
| 1398 | 5 | V1398M, |
| 1411 | 10 | |
| 1353 | 11 | V1353M, |
| 1407 | 11 | |
| 1410 | 14 | |
| 1714 | 14 | D1714G, |
| 1358 | 7 | G1358R, G1358R, G1358W, |
| 1396 | 10 | |
| 1362 | 7 | c.4083delG, R1362S, R1362S, |
| 1433 | 9 | G1433R, G1433R, G1433W, G1433V, |
| 1438 | 8 | P1438L, |
| 1388 | 15 | |
| 1404 | 12 | |
| 1423 | 10 | D1423H, |
| 1437 | 11 | |
| 1349 | 14 | |
| 1431 | 6 | S1431C, |
| 1422 | 14 | M1422R, |
| 1359 | 5 | K1359M, K1359N, K1359N, |
| 1356 | 7 | c.4066_4068delTT, |
| 1434 | 10 | c.4299_4300insG, c.4299+1delG, c.4299+1G>T, c.4299+28C>T, c.4299+2T>A, c.4299delG, c.4299G>A, Y1434X, c.4300-1G>A, c.4300-2A>T, |
| 1412 | 13 | L1412F, |
| 1408 | 11 | G1408R, G1408R, |
| 1420 | 13 | G1420R, G1420D, G1420V, G1420P, |
| 1435 | 13 | |
| 1360 | 0 | F1360C, |
| 1401 | 6 | |
| 1425 | 11 | |
| 1399 | 10 | |
| 1354 | 14 | |
| 1427 | 5 | A1427S, A1427E, |
| 1446 | 13 | |
| 1424 | 8 | I1424V, |
| 738 | 13 | |
| 1432 | 12 | R1432G, R1432S, R1432S, |
| 1439 | 13 | Q1439R, Q1439H, Q1439H, |
| 1405 | 14 | V1405M, V1405L, V1405L, |
| 740 | 14 | p.N740del, |
| 1364 | 12 | I1364V, |
| 878 | 15 | R878C, R878H, R878L, |
| 1400 | 7 | V1400I, |
| 1421 | 14 | |
| 1443 | 13 | N1443S, |
| 1415 | 14 | |
| 1428 | 6 | A1428S, A1428V, |
| 1363 | 12 | C1363Y, |
| 1436 | 13 | |
| 1414 | 14 | Q1414H, Q1414H, |
| 1402 | 7 |