SCN5A Variant E1441Q
Summary of observed carriers, functional annotations, and structural context for SCN5A E1441Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
0%
0/11 effective observations
Estimated BrS1 penetrance
43%
4/11 effective observations
Total carriers
1
1 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.86 | 0.977 | -1.59 | 0.957 | 54 | 1 |
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 |
|---|---|---|---|---|---|---|---|
| 20129283 | 2010 | 1 | 0 | 1 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 0 | 1 | – | |
| Variant features alone | – | 15 | 12 | 0 | 3 | – | – |
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) |
|---|---|---|---|---|---|---|
| 20129283 | 2010 |
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 |
|---|---|---|
| 880 | 10 | |
| 1430 | 9 | D1430N, |
| 1426 | 10 | |
| 1445 | 12 | Y1445H |
| 1447 | 13 | |
| 1444 | 8 | L1444I, |
| 153 | 15 | |
| 1440 | 4 | W1440X, |
| 1382 | 12 | S1382I, |
| 1380 | 14 | p.N1380del, N1380K, N1380K, |
| 1429 | 9 | |
| 1442 | 5 | Y1442N, Y1442C, |
| 887 | 15 | |
| 886 | 9 | H886P, H886Q, H886Q, |
| 1362 | 14 | c.4083delG, R1362S, R1362S, |
| 1438 | 11 | P1438L, |
| 1387 | 14 | L1387F, L1387F, |
| 1437 | 13 | |
| 876 | 10 | |
| 1431 | 12 | S1431C, |
| 882 | 11 | |
| 1383 | 11 | Q1383X, |
| 881 | 15 | |
| 889 | 14 | |
| 1425 | 14 | |
| 865 | 15 | |
| 1427 | 12 | A1427S, A1427E, |
| 1446 | 14 | |
| 1432 | 11 | R1432G, R1432S, R1432S, |
| 1439 | 7 | Q1439R, Q1439H, Q1439H, |
| 884 | 15 | |
| 874 | 15 | G874D, |
| 878 | 11 | R878C, R878H, R878L, |
| 885 | 11 | |
| 1443 | 9 | N1443S, |
| 1441 | 0 | E1441Q, |
| 152 | 13 | D152N, |
| 877 | 11 | |
| 879 | 12 | W879R, W879R, |
| 883 | 10 | |
| 875 | 12 | |
| 1428 | 13 | A1428S, A1428V, |