SCN5A Variant E1043K
Summary of observed carriers, functional annotations, and structural context for SCN5A E1043K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
9%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.53 | 0.999 | 1.43 | 0.485 | 5 | 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 | 15 | 0 | 0 | – | – |
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 |
|---|---|---|
| 1028 | 15 | |
| 1029 | 14 | E1029K, |
| 1030 | 14 | |
| 1031 | 13 | p.G1031fsX27, |
| 1032 | 13 | E1032D, E1032D, E1032K, |
| 1033 | 12 | Q1033R, |
| 1034 | 11 | P1034T, |
| 1035 | 11 | G1035V, |
| 1036 | 10 | |
| 1037 | 9 | |
| 1038 | 8 | |
| 1039 | 8 | |
| 1040 | 7 | G1040R, G1040R, |
| 1041 | 5 | D1041N, D1041G, |
| 1042 | 4 | |
| 1043 | 0 | E1043K, |
| 1044 | 4 | |
| 1045 | 5 | V1045M, |
| 1046 | 7 | |
| 1047 | 8 | c.3140_3141dupTG, |
| 1048 | 8 | c.3142_3143insTG, p.P1048SfsX96, P1048S, |
| 1049 | 9 | |
| 1050 | 10 | p.A1050DfsX9, A1050T, p.A1050CfsX9, |
| 1051 | 11 | V1051A, |
| 1052 | 11 | A1052D, p.A1052CfsX7 |
| 1053 | 12 | E1053K, |
| 1054 | 13 | |
| 1055 | 13 | D1055G, |
| 1056 | 14 | T1056A, |
| 1057 | 14 | |
| 1058 | 15 | c.3171_3172delTGinsA, |