SCN5A Variant N826D
Summary of observed carriers, functional annotations, and structural context for SCN5A N826D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
8%
0/11 effective observations
Estimated BrS1 penetrance
10%
1/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -4.95 | 0.993 | -3.08 | 0.877 | 5 | 11 |
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 | 14 | 0 | 1 | – | – |
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 |
|---|---|---|
| 821 | 8 | |
| 1340 | 11 | V1340I, |
| 1339 | 12 | L1339F, p.L1339del |
| 780 | 13 | |
| 1344 | 13 | F1344S, F1344L, |
| 819 | 5 | |
| 826 | 0 | N826D, |
| 818 | 10 | |
| 825 | 5 | |
| 781 | 9 | W781X, |
| 720 | 15 | |
| 822 | 8 | W822X, W822C, |
| 944 | 14 | |
| 830 | 7 | |
| 833 | 11 | G833R, |
| 724 | 14 | T724I, |
| 782 | 15 | N782T, |
| 831 | 10 | |
| 820 | 7 | |
| 823 | 5 | P823T, |
| 942 | 14 | |
| 834 | 12 | N834D, |
| 827 | 5 | |
| 816 | 11 | F816L, F816Y, |
| 817 | 11 | K817E, |
| 779 | 14 | Q779X, Q779K, |
| 815 | 13 | |
| 1343 | 13 | |
| 1337 | 14 | |
| 784 | 13 | F784L, |
| 1336 | 13 | |
| 824 | 6 | |
| 829 | 6 | |
| 832 | 11 | |
| 835 | 15 | S835A, S835L, |
| 828 | 7 | L828V, |