SCN5A Variant D1741E
Summary of observed carriers, functional annotations, and structural context for SCN5A D1741E. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
6%
0/11 effective observations
Estimated BrS1 penetrance
21%
2/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 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 (%) |
|---|---|---|---|---|---|
| -2.72 | 0.179 | 0.9 | 0.405 | 36 | 2 |
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 | 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 |
|---|---|---|
| 1741 | 0 | D1741N, D1741Y, D1741E, D1741E, |
| 1745 | 14 | |
| 1743 | 7 | G1743E, G1743R, G1743R, |
| 1725 | 15 | P1725L, |
| 1681 | 6 | c.5040_5042delTTAinsC, Y1681F, |
| 1694 | 13 | |
| 1737 | 12 | G1737D, |
| 1747 | 15 | V1747M, |
| 1695 | 11 | Q1695X, |
| 1688 | 12 | |
| 1684 | 10 | W1684R, W1684R, |
| 1676 | 15 | M1676I, M1676I, M1676I, M1676T, |
| 1744 | 11 | S1744I, |
| 1721 | 13 | |
| 1742 | 5 | |
| 1733 | 11 | |
| 1693 | 13 | |
| 1738 | 9 | S1738T, S1738F, |
| 1680 | 8 | A1680T, A1680P, |
| 1727 | 15 | |
| 1719 | 11 | |
| 1731 | 8 | |
| 1728 | 14 | C1728Y, C1728W, C1728R, |
| 1690 | 12 | c.5068_5070delGA, D1690N |
| 1678 | 13 | N1678S, |
| 1227 | 12 | |
| 1735 | 13 | |
| 1730 | 11 | P1730A, P1730L, P1730H, |
| 1683 | 4 | |
| 1718 | 14 | S1718R, S1718R, S1718R, |
| 1739 | 4 | R1739Q, R1739W, |
| 1734 | 13 | |
| 1677 | 14 | |
| 1682 | 5 | |
| 1722 | 12 | N1722D, |
| 1686 | 15 | |
| 1729 | 13 | D1729N, |
| 1740 | 4 | G1740R, G1740R, |
| 1720 | 11 | c.5157delC, |
| 1732 | 8 | |
| 1679 | 11 | |
| 1685 | 11 |