KCNQ1 Variant E578V
Summary of observed carriers, functional annotations, and structural context for KCNQ1 E578V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
75%
8/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -2.98 | 0.853 | -2 | 0.755 | 80 |
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 |
|---|---|---|---|---|---|
| 32893267 | 2020 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| Variant features alone | – | 15 | 3 | 7 | – |
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 |
|---|---|---|
| 578 | 0 | E578K, E578V, |
| 577 | 4 | |
| 579 | 4 | |
| 576 | 5 | V576I, |
| 580 | 5 | S580G, S580N, |
| 575 | 7 | |
| 581 | 7 | |
| 574 | 8 | I574V, |
| 582 | 8 | |
| 573 | 8 | F573L, F573L, F573L, |
| 583 | 8 | R583H, R583C, R583G, |
| 572 | 9 | |
| 584 | 9 | G584S, |
| 571 | 10 | S571L, S571P, |
| 585 | 10 | S585N |
| 570 | 11 | P570L, |
| 586 | 11 | N586D, |
| 569 | 11 | K569E, |
| 587 | 11 | T587M, T587R, |
| 568 | 12 | G568R, G568R, G568E, |
| 588 | 12 | I588F, |
| 567 | 13 | I567T, I567S, |
| 589 | 13 | G589D, G589S, |
| 566 | 13 | S566F, S566Y, S566P, |
| 590 | 13 | A590T, |
| 565 | 14 | |
| 591 | 14 | R591H, R591C, R591L, |
| 564 | 14 | D564H, D564N, |
| 592 | 14 | |
| 563 | 15 | |
| 593 | 15 | N593S, |