SCN5A Variant K343M
Summary of observed carriers, functional annotations, and structural context for SCN5A K343M. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
18%
0/10 effective observations
Estimated BrS1 penetrance
18%
1/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 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 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.894 | 17 | 21 |
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 | 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 |
|---|---|---|
| 328 | 12 | |
| 277 | 5 | |
| 271 | 14 | L271V, |
| 326 | 13 | |
| 276 | 9 | L276P, L276Q, |
| 348 | 13 | P348A, |
| 317 | 12 | K317N, K317N, K317E, K317M, |
| 270 | 15 | Q270K, |
| 279 | 8 | |
| 385 | 13 | A385T, |
| 1552 | 14 | Q1552L, Q1552R, |
| 355 | 14 | F355I, F355C, |
| 1549 | 12 | |
| 278 | 6 | H278D, H278R, |
| 356 | 11 | D356N, |
| 343 | 0 | |
| 327 | 11 | |
| 384 | 11 | S384T, |
| 354 | 12 | |
| 340 | 12 | R340Q, R340W, |
| 1550 | 7 | |
| 357 | 15 | |
| 272 | 12 | |
| 341 | 8 | C341Y, |
| 274 | 6 | G274C, |
| 273 | 9 | |
| 325 | 12 | L325R, |
| 321 | 14 | S321Y, |
| 269 | 14 | |
| 345 | 8 | |
| 275 | 8 | N275K, N275K |
| 280 | 12 | C280Y, |
| 323 | 13 | |
| 347 | 11 | |
| 351 | 14 | G351C, G351V, G351S, G351D, |
| 320 | 12 | T320N, |
| 342 | 6 | |
| 1551 | 8 | D1551N, D1551Y, |
| 346 | 11 | E346G, E346D, E346K, E346X, E346D, |
| 344 | 5 | A344S, |
| 381 | 14 | c.1141-3C>A, c.1140+1G>A, |
| 380 | 15 | |
| 281 | 11 | V281M, |
| 353 | 14 | T353I, |