KCNQ1 Variant S463T
Summary of observed carriers, functional annotations, and structural context for KCNQ1 S463T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
6%
1/22 effective observations
Total carriers
12
0 LQT1 · 12 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -0.39 | 0.034 | 1 | 0.493 | 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. BLAST-PSSM reflects evolutionary conservation; more negative values indicate rarer substitutions. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).
Reported carrier data
| Source | Year | Carriers | Unaffected | LQT1 | Other Disease |
|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 12 | 12 | 0 | – |
| Variant features alone | – | 15 | 9 | 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 |
|---|---|---|
| 463 | 0 | S463T, |
| 462 | 4 | D462N |
| 464 | 4 | S464P, |
| 461 | 5 | |
| 465 | 5 | |
| 460 | 7 | G460S, G460D, G460C, |
| 466 | 7 | |
| 459 | 8 | D459N, D459V, |
| 467 | 8 | K467R, |
| 458 | 8 | |
| 468 | 8 | S468G, S468N, |
| 457 | 9 | |
| 469 | 9 | |
| 456 | 10 | F456L, F456L, F456L, |
| 470 | 10 | |
| 455 | 11 | H455Y, H455Q, H455Q, H455R, |
| 471 | 11 | |
| 454 | 11 | |
| 472 | 11 | L472P, |
| 453 | 12 | |
| 473 | 12 | E473Q, |
| 452 | 13 | R452Q, R452W, R452L, |
| 474 | 13 | |
| 451 | 13 | R451Q, R451W, |
| 475 | 13 | |
| 450 | 14 | E450K, |
| 476 | 14 | M476L, M476L, M476V, |
| 449 | 14 | E449K, |
| 477 | 14 | P477L, P477T, |
| 448 | 15 | P448R, P448Q, P448L, P448S, |
| 478 | 15 | H478Y, |