KCNQ1 Variant F573S
Summary of observed carriers, functional annotations, and structural context for KCNQ1 F573S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
24%
2/10 effective observations
Total carriers
0
0 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -4.13 | 0.213 | -1 | 0.805 | 23 |
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 | 8 | 2 | – |
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 |
|---|---|---|
| 573 | 0 | F573L, F573L, F573L, |
| 572 | 4 | |
| 574 | 4 | I574V, |
| 571 | 5 | S571L, S571P, |
| 575 | 5 | |
| 570 | 7 | P570L, |
| 576 | 7 | V576I, |
| 569 | 8 | K569E, |
| 577 | 8 | |
| 568 | 8 | G568R, G568R, G568E, |
| 578 | 8 | E578K, E578V, |
| 567 | 9 | I567T, I567S, |
| 579 | 9 | |
| 566 | 10 | S566F, S566Y, S566P, |
| 580 | 10 | S580G, S580N, |
| 565 | 11 | |
| 581 | 11 | |
| 564 | 11 | D564H, D564N, |
| 582 | 11 | |
| 563 | 12 | |
| 583 | 12 | R583H, R583C, R583G, |
| 562 | 13 | R562M, R562S, R562S, |
| 584 | 13 | G584S, |
| 561 | 13 | |
| 585 | 13 | S585N |
| 560 | 14 | |
| 586 | 14 | N586D, |
| 559 | 14 | L559P, |
| 587 | 14 | T587M, T587R, |
| 558 | 15 | |
| 588 | 15 | I588F, |