SCN5A Variant E1130K
Summary of observed carriers, functional annotations, and structural context for SCN5A E1130K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
0%
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 (%) |
|---|---|---|---|---|---|
| -0.61 | 0.002 | 0.65 | 0.54 | 20 | 0 |
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 |
|---|---|---|
| 1115 | 15 | W1115R, W1115R, W1115X, |
| 1116 | 14 | R1116Q, R1116W, |
| 1117 | 14 | |
| 1118 | 13 | Q1118X, |
| 1119 | 13 | |
| 1120 | 12 | |
| 1121 | 11 | A1121V, |
| 1122 | 11 | |
| 1123 | 10 | |
| 1124 | 9 | |
| 1125 | 8 | A1125T, A1125G, A1125V, |
| 1126 | 8 | |
| 1127 | 7 | |
| 1128 | 5 | C1128X, |
| 1129 | 4 | G1129S, |
| 1130 | 0 | E1130K, |
| 1131 | 4 | c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S, |
| 1132 | 5 | P1132S, |
| 1133 | 7 | |
| 1134 | 8 | D1134N, D1134E, D1134E, |
| 1135 | 8 | S1135I |
| 1136 | 9 | C1136Y, |
| 1137 | 10 | |
| 1138 | 11 | |
| 1139 | 11 | |
| 1140 | 12 | S1140T, |
| 1141 | 13 | |
| 1142 | 13 | |
| 1143 | 14 | |
| 1144 | 14 | |
| 1145 | 15 |