SCN5A Variant E1555K
Summary of observed carriers, functional annotations, and structural context for SCN5A E1555K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
1%
0/11 effective observations
Estimated BrS1 penetrance
13%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -2.08 | 0.047 | -0.3 | 0.656 | 10 | 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 |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
| Variant features alone | – | 15 | 14 | 0 | 1 | – | – |
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 |
|---|---|---|
| 1560 | 10 | L1560F, L1560F |
| 1551 | 12 | D1551N, D1551Y, |
| 1559 | 8 | I1559V, |
| 1544 | 15 | T1544P, |
| 1553 | 5 | S1553R, S1553R, S1553R, |
| 1547 | 13 | V1547L, V1547L, |
| 1563 | 13 | |
| 1554 | 5 | |
| 1552 | 9 | Q1552R, Q1552L, |
| 1549 | 13 | |
| 1556 | 5 | |
| 1558 | 7 | |
| 1548 | 13 | E1548K, G1548K, |
| 1550 | 15 | |
| 1561 | 12 | |
| 1557 | 7 | I1557V, |
| 1555 | 0 | E1555K, |
| 1562 | 11 |