KCNQ1 Variant E435G
Summary of observed carriers, functional annotations, and structural context for KCNQ1 E435G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
17%
1/10 effective observations
Total carriers
0
0 LQT1 · 0 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 (%) |
|---|---|---|---|---|
| -1.91 | 0.001 | 0 | 0.531 | 16 |
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 | – | 0 | 0 | 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 |
|---|---|---|
| 435 | 0 | |
| 434 | 4 | G434R, G434R, |
| 436 | 4 | |
| 433 | 5 | P433A, |
| 437 | 5 | M437V, |
| 432 | 7 | T432I, T432A, |
| 438 | 7 | |
| 431 | 8 | V431L, V431L, |
| 439 | 8 | |
| 430 | 8 | |
| 440 | 8 | |
| 429 | 9 | N429S, |
| 441 | 9 | P441S, |
| 428 | 10 | D428G, |
| 442 | 10 | H442R, |
| 427 | 11 | |
| 443 | 11 | |
| 426 | 11 | |
| 444 | 11 | T444M, T444K |
| 425 | 12 | L425V, |
| 445 | 12 | |
| 424 | 13 | K424T, |
| 446 | 13 | D446E, D446E, D446E, D446E, D446N, |
| 423 | 13 | |
| 447 | 13 | P447H, |
| 422 | 14 | K422T, K422R, |
| 448 | 14 | P448R, P448Q, P448L, P448S, |
| 421 | 14 | K421N, K421N, |
| 449 | 14 | E449K, |
| 420 | 15 | K420E, K420N, K420N, |
| 450 | 15 | E450K, |