SCN5A Variant E1877K
Summary of observed carriers, functional annotations, and structural context for SCN5A E1877K. 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 (%) |
---|---|---|---|---|---|
-3.55 | 0.668 | 1.7 | 0.849 | 4 | 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 | 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 |
---|---|---|
1855 | 10 | |
1875 | 7 | M1875T, p.M1875dup, M1875K, |
1872 | 9 | K1872N, K1872N, |
1884 | 12 | P1884L, |
1878 | 6 | |
1491 | 13 | Q1491H, Q1491H |
1871 | 11 | |
1856 | 12 | |
1860 | 15 | c.5577_5578dupAA, |
1874 | 5 | |
1862 | 13 | |
1837 | 15 | |
1863 | 13 | |
1867 | 13 | |
1858 | 14 | |
1873 | 5 | I1873V, |
1879 | 8 | |
1881 | 8 | |
1877 | 0 | E1877K, |
1882 | 10 | |
1885 | 14 | |
1870 | 12 | A1870T, |
1883 | 12 | |
1498 | 12 | M1498T, M1498V, M1498R, |
1839 | 11 | D1839G, |
1880 | 6 | M1880V, |
1866 | 15 | |
1494 | 11 | |
1838 | 13 | |
1859 | 8 | |
1869 | 11 | |
1876 | 6 | |
1868 | 14 |