SCN5A Variant R481Q
Summary of observed carriers, functional annotations, and structural context for SCN5A R481Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
3%
0/15 effective observations
Estimated BrS1 penetrance
2%
0/15 effective observations
Total carriers
5
0 BrS1 · 0 LQT3 · 5 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 (%) |
|---|---|---|---|---|---|
| -1.82 | 0.007 | 0.82 | 0.241 | 2 | 0 |
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 | – | 5 | 5 | 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 |
|---|---|---|
| 466 | 15 | L466F, L466F, |
| 467 | 14 | |
| 468 | 14 | P468L, |
| 469 | 13 | V469I, |
| 470 | 13 | N470K, N470K, |
| 471 | 12 | |
| 472 | 11 | |
| 473 | 11 | E473X, |
| 474 | 10 | R474G, R474K, |
| 475 | 9 | R475K, R475S, R475S, |
| 476 | 8 | |
| 477 | 8 | c.1428_1431delCAAG, |
| 478 | 7 | |
| 479 | 5 | |
| 480 | 4 | K480N, K480N, |
| 481 | 0 | R481W, R481Q, |
| 482 | 4 | M482I, M482I, M482I, |
| 483 | 5 | |
| 484 | 7 | |
| 485 | 8 | |
| 486 | 8 | T486A, T486S, T486S, |
| 487 | 9 | |
| 488 | 10 | |
| 489 | 11 | |
| 490 | 11 | G490E, G490A, |
| 491 | 12 | E491G, |
| 492 | 13 | |
| 493 | 13 | R493K, |
| 494 | 14 | |
| 495 | 14 | |
| 496 | 15 | K496M, K496N, K496N |