KCNQ1 Variant E543K
Summary of observed carriers, functional annotations, and structural context for KCNQ1 E543K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
65%
7/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 6 individuals with LQT1 and 4 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -3.49 | 0.992 | 0 | 0.936 | 68 |
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 |
|---|---|---|---|---|---|
| 19716085 | 2009 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| Variant features alone | – | 15 | 4 | 6 | – |
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 |
|---|---|---|
| 527 | 9 | |
| 547 | 11 | Q547R, |
| 524 | 12 | V524G, |
| 541 | 13 | V541I, |
| 545 | 13 | |
| 542 | 13 | |
| 530 | 13 | |
| 366 | 14 | R366W, R366Q, |
| 525 | 14 | A525T, A525V, |
| 528 | 14 | |
| 362 | 14 | K362R, K362del, |
| 550 | 14 | |
| 531 | 14 | |
| 538 | 14 | |
| 370 | 15 | A370V, |
| 532 | 15 | |
| 543 | 15 | E543K, |
| 546 | 15 | S546L, S546W |
| 544 | 15 | Q544E, |