SCN5A Variant V1763L
Summary of observed carriers, functional annotations, and structural context for SCN5A V1763L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
62%
3/11 effective observations
Estimated BrS1 penetrance
13%
1/11 effective observations
Total carriers
1
0 BrS1 · 1 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 2 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-2.77 | 0.974 | 2.9 | 0.929 | 17 | 71 |
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 |
---|---|---|---|---|---|---|---|
30059973 | 2018 | 1 | 1 | 0 | 0 | ||
Literature, cohort, and gnomAD | – | 1 | 0 | 1 | 0 | – | |
Variant features alone | – | 15 | 12 | 2 | 1 | – | – |
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.
PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
---|---|---|---|---|---|---|
30059973 | 2018 |
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 |
---|---|---|
403 | 14 | |
1328 | 12 | V1328M, |
1659 | 11 | |
1765 | 6 | |
1653 | 15 | |
1757 | 9 | |
1472 | 13 | p.N1472del, N1472S, |
1315 | 14 | |
1771 | 13 | I1771T, |
401 | 14 | S401P, |
1756 | 11 | I1756V, |
1314 | 13 | c.3940_3941delCT, |
1320 | 11 | M1320I, |
1764 | 4 | V1764F, c.5290delG, |
1666 | 11 | |
371 | 15 | Q371E, |
1333 | 15 | |
1754 | 12 | |
1707 | 13 | |
1656 | 12 | |
1704 | 13 | L1704H, |
1671 | 13 | |
1762 | 5 | p.I1762del, I1762M, |
1470 | 13 | |
1668 | 11 | M1668T, |
1466 | 11 | c.4396_4397insG, |
1753 | 15 | T1753A, |
1767 | 8 | Y1767C, |
1660 | 6 | I1660V, I1660S, |
1329 | 13 | G1329S, |
1769 | 10 | |
402 | 10 | F402L, |
1766 | 4 | M1766T, M1766L, M1766V, |
1319 | 14 | G1319V, |
1665 | 13 | |
1768 | 9 | I1768V, |
1473 | 11 | F1473S, F1473C, |
1334 | 12 | I1334V, |
1468 | 13 | V1468A, V1468F, |
1663 | 7 | |
397 | 14 | I397F, I397T, I397V |
1462 | 14 | |
1657 | 10 | |
1759 | 5 | S1759C, |
1662 | 11 | |
1324 | 11 | |
1327 | 8 | |
1709 | 11 | T1709R, T1709M, p.T1709del, |
1758 | 6 | p.I1758del, I1758V, |
1755 | 9 | |
1330 | 11 | A1330P, A1330T, A1330D, |
1772 | 14 | L1772V, |
1713 | 15 | |
1323 | 9 | V1323G, |
1770 | 11 | I1770V, |
1708 | 9 | T1708I, |
1705 | 14 | |
1322 | 13 | c.3963+2T>C, c.3963+4A>G, |
1326 | 10 | A1326S, |
1763 | 0 | V1763M, V1763L, |
1311 | 14 | L1311P, |
1465 | 11 | p.F1465_L1480dup, |
1760 | 8 | |
1467 | 13 | |
1670 | 14 | |
1661 | 9 | G1661R, G1661E, |
1331 | 12 | I1331V, |
1761 | 8 | L1761H, L1761F, c.5280delG, |
1469 | 9 | I1469V, |
406 | 13 | N406S, N406K, |
1710 | 13 | S1710L, |
1325 | 14 | N1325S, |
398 | 12 | |
1667 | 9 | V1667I, |
1664 | 6 | |
1463 | 15 | N1463Y, |
1658 | 13 |