KCNQ1 Variant S571P
Summary of observed carriers, functional annotations, and structural context for KCNQ1 S571P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
47%
5/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -2.17 | 0.099 | 5 | 0.748 | 58 |
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 | – | 1 | 1 | 0 | – |
| Variant features alone | – | 15 | 5 | 5 | – |
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 |
|---|---|---|
| 571 | 0 | S571L, S571P, |
| 570 | 4 | P570L, |
| 572 | 4 | |
| 569 | 5 | K569E, |
| 573 | 5 | F573L, F573L, F573L, |
| 568 | 7 | G568R, G568R, G568E, |
| 574 | 7 | I574V, |
| 567 | 8 | I567T, I567S, |
| 575 | 8 | |
| 566 | 8 | S566F, S566Y, S566P, |
| 576 | 8 | V576I, |
| 565 | 9 | |
| 577 | 9 | |
| 564 | 10 | D564H, D564N, |
| 578 | 10 | E578K, E578V, |
| 563 | 11 | |
| 579 | 11 | |
| 562 | 11 | R562M, R562S, R562S, |
| 580 | 11 | S580G, S580N, |
| 561 | 12 | |
| 581 | 12 | |
| 560 | 13 | |
| 582 | 13 | |
| 559 | 13 | L559P, |
| 583 | 13 | R583H, R583C, R583G, |
| 558 | 14 | |
| 584 | 14 | G584S, |
| 557 | 14 | K557E, |
| 585 | 14 | S585N |
| 556 | 15 | |
| 586 | 15 | N586D, |