KCNQ1 Variant R190W
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R190W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
73%
29/40 effective observations
Total carriers
30
25 LQT1 · unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -7.38 | 1.0 | -3 | 0.895 | 57 |
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 | 19 | None | 19 | None |
| 31009818 | 2019 | 1 | 1 | None | None |
| 30758498 | 2019 | 2 | 1 | 1 | None |
| 29978770 | 2018 | 4 | 2 | 2 | HCM in 1 |
| 29677589 | 2018 | None | None | None | None |
| 25825456 | 2016 | 4 | 1 | 3 | LQTS + HCM |
| 25471708 | 2015 | 1 | None | None | JLNS w/ vestibular DFx |
| 24363352 | 2014 | 1 | None | None | None |
| 24218437 | 2013 | 1 | None | 1 | None |
| 23631430 | 2013 | 1 | None | None | None |
| 22539601 | 2012 | 1 | None | None | None |
| 19490272 | 2009 | 1 | None | 1 | None |
| 17192539 | 2006 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 30 | 25 | – | |
| Variant features alone | – | 15 | 6 | 4 | – |
Totals may differ from individual publications due to duplicate patients removed during curation.