SCN5A Variant E1032K
Summary of observed carriers, functional annotations, and structural context for SCN5A E1032K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
9%
1/25 effective observations
Estimated BrS1 penetrance
3%
0/25 effective observations
Total carriers
15
0 BrS1 · 1 LQT3 · 14 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 (%) |
|---|---|---|---|---|---|
| 0 | 0 | 0.01 | 0.387 | 0 | 21 |
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 |
|---|---|---|---|---|---|---|---|
| 26669661 | 2016 | 2 | 1 | 0 | 0 | ||
| Literature, cohort, and gnomAD | – | 15 | 14 | 1 | 0 | – | |
| Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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) |
|---|---|---|---|---|---|---|
| 26669661 | 2016 |
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 |
|---|---|---|
| 1017 | 15 | |
| 1018 | 14 | K1018E, |
| 1019 | 14 | |
| 1020 | 13 | |
| 1021 | 13 | P1021S, |
| 1022 | 12 | |
| 1023 | 11 | R1023H, R1023P, R1023C, |
| 1024 | 11 | K1024R, |
| 1025 | 10 | E1025A, |
| 1026 | 9 | |
| 1027 | 8 | R1027P, R1027Q, R1027W, |
| 1028 | 8 | |
| 1029 | 7 | E1029K, |
| 1030 | 5 | |
| 1031 | 4 | p.G1031fsX27, |
| 1032 | 0 | E1032D, E1032D, E1032K, |
| 1033 | 4 | Q1033R, |
| 1034 | 5 | P1034T, |
| 1035 | 7 | G1035V, |
| 1036 | 8 | |
| 1037 | 8 | |
| 1038 | 9 | |
| 1039 | 10 | |
| 1040 | 11 | G1040R, G1040R, |
| 1041 | 11 | D1041N, D1041G, |
| 1042 | 12 | |
| 1043 | 13 | E1043K, |
| 1044 | 13 | |
| 1045 | 14 | V1045M, |
| 1046 | 14 | |
| 1047 | 15 | c.3140_3141dupTG, |