SCN5A Variant D349E
Summary of observed carriers, functional annotations, and structural context for SCN5A D349E. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/10 effective observations
Estimated BrS1 penetrance
31%
3/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.752 | 43 | 1 |
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 | – | 0 | 0 | 0 | 0 | – | |
| Variant features alone | – | 15 | 12 | 0 | 3 | – | – |
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 |
|---|---|---|
| 364 | 12 | |
| 277 | 12 | |
| 901 | 9 | E901K, S901L, |
| 276 | 11 | L276Q, L276P, |
| 363 | 13 | |
| 348 | 4 | P348A, |
| 360 | 12 | |
| 279 | 12 | |
| 355 | 13 | F355I, F355C, |
| 278 | 15 | H278D, H278R, |
| 372 | 13 | |
| 356 | 15 | D356N, |
| 361 | 15 | |
| 904 | 7 | W904X, |
| 376 | 7 | R376C, R376H, |
| 384 | 15 | S384T, |
| 871 | 12 | |
| 354 | 10 | |
| 909 | 15 | |
| 902 | 13 | |
| 349 | 0 | D349N, |
| 373 | 11 | |
| 379 | 12 | |
| 898 | 15 | |
| 274 | 15 | G274C, |
| 325 | 11 | L325R, |
| 900 | 10 | |
| 324 | 10 | |
| 321 | 12 | S321Y, |
| 872 | 11 | D872N, |
| 345 | 13 | |
| 383 | 14 | |
| 912 | 15 | Q912R |
| 323 | 10 | |
| 347 | 7 | |
| 906 | 14 | |
| 351 | 7 | G351S, G351C, G351D, G351V, |
| 374 | 15 | W374G, |
| 350 | 5 | H350Q, H350Q, |
| 903 | 12 | p.M903CfsX29, |
| 367 | 11 | R367C, R367H, R367L, |
| 346 | 10 | E346K, E346G, E346X, E346D, E346D, |
| 344 | 14 | A344S, |
| 381 | 13 | c.1140+1G>A, c.1141-3C>A, |
| 322 | 9 | |
| 905 | 10 | |
| 375 | 12 | |
| 352 | 9 | Y352C, |
| 899 | 14 | |
| 380 | 8 | |
| 377 | 10 | |
| 908 | 11 | |
| 873 | 15 | S873A, |
| 353 | 6 | T353I, |
| 907 | 12 |