SCN5A Variant D1134E
Summary of observed carriers, functional annotations, and structural context for SCN5A D1134E. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/11 effective observations
Estimated BrS1 penetrance
5%
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 (%) |
|---|---|---|---|---|---|
| -0.59 | 0.005 | 0.22 | 0.448 | 6 | 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 | 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 |
|---|---|---|
| 1119 | 15 | |
| 1120 | 14 | |
| 1121 | 14 | A1121V, |
| 1122 | 13 | |
| 1123 | 13 | |
| 1124 | 12 | |
| 1125 | 11 | A1125T, A1125G, A1125V, |
| 1126 | 11 | |
| 1127 | 10 | |
| 1128 | 9 | C1128X, |
| 1129 | 8 | G1129S, |
| 1130 | 8 | E1130K, |
| 1131 | 7 | c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S, |
| 1132 | 5 | P1132S, |
| 1133 | 4 | |
| 1134 | 0 | D1134N, D1134E, D1134E, |
| 1135 | 4 | S1135I |
| 1136 | 5 | C1136Y, |
| 1137 | 7 | |
| 1138 | 8 | |
| 1139 | 8 | |
| 1140 | 9 | S1140T, |
| 1141 | 10 | |
| 1142 | 11 | |
| 1143 | 11 | |
| 1144 | 12 | |
| 1145 | 13 | |
| 1146 | 13 | |
| 1147 | 14 | T1147I, T1147N, T1147S, T1147S, |
| 1148 | 14 | A1148S, A1148T, |
| 1149 | 15 |