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

E1877K is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational 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

Observed carriers by publication or cohort.
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.

Previously observed variants near E1877K.
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