SCN5A Variant P336R
Summary of observed carriers, functional annotations, and structural context for SCN5A P336R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
14%
0/10 effective observations
Estimated BrS1 penetrance
36%
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 | 0.89 | 50 | 15 |
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, |
| 1689 | 13 | D1689N, |
| 341 | 10 | C341Y, |
| 342 | 12 | |
| 326 | 7 | |
| 335 | 4 | C335S, C335S, C335R, |
| 327 | 10 | |
| 339 | 4 | |
| 384 | 14 | S384T, |
| 325 | 12 | L325R, |
| 1684 | 14 | W1684R, W1684R, |
| 284 | 13 | |
| 336 | 0 | P336L, |
| 1690 | 12 | c.5068_5070delGA, D1690N, |
| 329 | 14 | |
| 282 | 9 | R282C, R282H, |
| 279 | 12 | |
| 324 | 11 | |
| 340 | 10 | R340Q, R340W, |
| 338 | 6 | |
| 285 | 15 | T285K, |
| 278 | 14 | H278D, H278R, |
| 1691 | 14 | |
| 334 | 7 | c.999-424_1338+81del, |
| 383 | 11 | |
| 280 | 7 | C280Y, |
| 281 | 10 | V281M, |
| 323 | 12 | |
| 283 | 11 | |
| 337 | 6 | |
| 332 | 12 | A332T, |