SCN5A Variant E1105V
Summary of observed carriers, functional annotations, and structural context for SCN5A E1105V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/11 effective observations
Estimated BrS1 penetrance
8%
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 (%) |
|---|---|---|---|---|---|
| -1.81 | 0.022 | -1.91 | 0.494 | 1 | 7 |
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 |
|---|---|---|
| 1090 | 15 | P1090L, P1090Q, |
| 1091 | 14 | D1091A, D1091Y, |
| 1092 | 14 | |
| 1093 | 13 | |
| 1094 | 13 | |
| 1095 | 12 | W1095C, W1095C, W1095X, |
| 1096 | 11 | S1096C, S1096G, |
| 1097 | 11 | c.3288+2delT, Q1097H, Q1097H, |
| 1098 | 10 | V1098M, V1098L, V1098L, |
| 1099 | 9 | |
| 1100 | 8 | A1100T, A1100V, |
| 1101 | 8 | |
| 1102 | 7 | A1102T, |
| 1103 | 5 | S1103Y, S1103F, |
| 1104 | 4 | |
| 1105 | 0 | E1105V, E1105X, |
| 1106 | 4 | A1106T, |
| 1107 | 5 | p.E1107RfsX24, E1107K, E1107X, |
| 1108 | 7 | |
| 1109 | 8 | S1109G, |
| 1110 | 8 | |
| 1111 | 9 | |
| 1112 | 10 | Q1112X, |
| 1113 | 11 | A1113T, A1113V, |
| 1114 | 11 | D1114E, D1114E, D1114N, |
| 1115 | 12 | W1115X, W1115R, W1115R, |
| 1116 | 13 | R1116W, R1116Q, |
| 1117 | 13 | |
| 1118 | 14 | Q1118X, |
| 1119 | 14 | |
| 1120 | 15 |