SCN5A Variant S943N
Summary of observed carriers, functional annotations, and structural context for SCN5A S943N. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
14%
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 (%) |
|---|---|---|---|---|---|
| -2.93 | 0.985 | 2.51 | 0.85 | 1 | 17 |
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 |
|---|---|---|
| 939 | 7 | L939F, |
| 937 | 11 | |
| 1773 | 14 | |
| 943 | 0 | S943N, |
| 1472 | 11 | p.N1472del, N1472S, |
| 1487 | 12 | M1487L, M1487L, M1487K, |
| 1333 | 13 | |
| 417 | 11 | |
| 934 | 15 | |
| 1471 | 7 | |
| 935 | 13 | L935P, |
| 1470 | 10 | |
| 1464 | 12 | c.4389_4396delCCTCTTTA, L1464P, |
| 1466 | 13 | c.4396_4397insG, |
| 1478 | 14 | K1478E, |
| 944 | 4 | |
| 830 | 13 | |
| 833 | 15 | G833R, G833R, |
| 1769 | 15 | |
| 940 | 6 | S940N, |
| 1473 | 14 | F1473S, F1473C, |
| 1468 | 9 | V1468F, V1468A, |
| 831 | 9 | |
| 420 | 13 | |
| 938 | 9 | |
| 1474 | 11 | |
| 942 | 6 | |
| 834 | 12 | N834D, |
| 1772 | 15 | L1772V |
| 827 | 12 | |
| 1460 | 15 | F1460L, F1460L, F1460L, |
| 416 | 13 | Y416C, |
| 413 | 14 | A413T, A413E, |
| 941 | 6 | S941N, S941F, |
| 1337 | 15 | |
| 936 | 11 | |
| 1467 | 9 | |
| 1484 | 15 | |
| 421 | 14 | |
| 1475 | 12 | p.Q1475NfsX6, Q1475L, |
| 1469 | 13 | I1469V, |
| 832 | 13 | |
| 835 | 13 | S835A, S835L, |
| 828 | 13 | L828V, |
| 1489 | 14 | E1489D, E1489D, |