KCNQ1 Variant S349W
Summary of observed carriers, functional annotations, and structural context for KCNQ1 S349W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
84%
10/12 effective observations
Total carriers
2
2 LQT1 · unaffected
Functional studies
1
Publications with functional data
Variant features alone are equivalent to phenotyping 8 individuals with LQT1 and 2 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -6.49 | 1.0 | -4 | 0.95 | 93 |
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 |
|---|---|---|---|---|---|
| 33614747 | 2021 | 1 | None | 1 | None |
| 25471708 | 2015 | 1 | None | None | JLNS w/ vestibular DFx |
| 23153844 | 2012 | 15 | None | 1 | None |
| 22539601 | 2012 | 1 | None | None | None |
| 20662986 | 2011 | None | None | None | None |
| 19490272 | 2009 | 15 | None | 15 | None |
| 17470695 | 2007 | 15 | None | 15 | None |
| 14678125 | 2003 | 10 | None | 10 | None |
| Literature, cohort, and gnomAD | – | 2 | 2 | – | |
| Variant features alone | – | 15 | 2 | 8 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.