SCN5A Variant R1910K
Summary of observed carriers, functional annotations, and structural context for SCN5A R1910K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
11%
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 (%) |
|---|---|---|---|---|---|
| -1.93 | 0.796 | 2.46 | 0.751 | 2 | 14 |
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 |
|---|---|---|
| 1895 | 15 | T1895I, |
| 1896 | 14 | p.L1896PfsX47, L1896P, |
| 1897 | 14 | R1897Y, R1897W, R1897Q, |
| 1898 | 13 | R1898H, R1898C, |
| 1899 | 13 | |
| 1900 | 12 | |
| 1901 | 11 | E1901K, E1901Q, |
| 1902 | 11 | E1902A, |
| 1903 | 10 | V1903M, |
| 1904 | 9 | S1904L, |
| 1905 | 8 | |
| 1906 | 8 | M1906V, M1906T, |
| 1907 | 7 | |
| 1908 | 5 | I1908V, |
| 1909 | 4 | Q1909R, |
| 1910 | 0 | R1910K, |
| 1911 | 4 | |
| 1912 | 5 | |
| 1913 | 7 | R1913C, R1913H, R1913S, |
| 1914 | 8 | R1914G, |
| 1915 | 8 | H1915P, H1915Y, H1915Q, H1915N, |
| 1916 | 9 | |
| 1917 | 10 | |
| 1918 | 11 | |
| 1919 | 11 | R1919H, R1919C |
| 1920 | 12 | S1920C, |
| 1921 | 13 | |
| 1922 | 13 | K1922N, K1922R, |
| 1923 | 14 | H1923D, H1923Y, |
| 1924 | 14 | A1924T, |
| 1925 | 15 | p.S1925CfsX20, S1925F, |