SCN5A Variant K387R
Summary of observed carriers, functional annotations, and structural context for SCN5A K387R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
6%
0/10 effective observations
Estimated BrS1 penetrance
35%
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 | 0.918 | 47 | 4 |
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 |
|---|---|---|
| 328 | 12 | |
| 333 | 10 | c.998+5G>A, c.998+1G>A, |
| 271 | 15 | L271V, |
| 1702 | 7 | |
| 326 | 14 | |
| 387 | 0 | |
| 385 | 8 | A385T, |
| 391 | 10 | |
| 330 | 7 | S330F, |
| 388 | 5 | I388S, |
| 1698 | 6 | A1698T, |
| 334 | 12 | c.999-424_1338+81del, |
| 332 | 7 | A332T, |
| 1694 | 14 | |
| 1704 | 14 | L1704H, |
| 327 | 12 | |
| 1706 | 14 | Q1706H, |
| 1695 | 14 | Q1695X, |
| 384 | 11 | S384T, |
| 329 | 8 | |
| 1668 | 14 | M1668T, |
| 1692 | 10 | |
| 386 | 5 | G386E, G386R, |
| 1672 | 15 | S1672Y, |
| 1693 | 12 | |
| 378 | 10 | |
| 1699 | 8 | |
| 331 | 5 | |
| 379 | 12 | |
| 1703 | 12 | |
| 272 | 14 | |
| 1701 | 9 | M1701I, |
| 325 | 15 | L325R, |
| 1228 | 14 | Y1228H, Y1228F, Y1228C, |
| 1690 | 14 | D1690N, c.5068_5070delGA, |
| 1223 | 15 | c.3667delG, |
| 392 | 13 | |
| 1697 | 9 | |
| 389 | 8 | Y389X, Y389H, |
| 393 | 11 | |
| 390 | 7 | |
| 394 | 12 | |
| 275 | 15 | N275K, |
| 383 | 11 | |
| 382 | 7 | |
| 1696 | 10 | |
| 1705 | 11 | |
| 1689 | 13 | D1689N, |
| 1700 | 11 | |
| 1224 | 14 | |
| 381 | 10 | c.1140+1G>A, c.1141-3C>A, |
| 1691 | 8 | |
| 380 | 14 |