KCNQ1 Variant R670K
Summary of observed carriers, functional annotations, and structural context for KCNQ1 R670K. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
5%
0/17 effective observations
Total carriers
7
0 LQT1 · 7 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| 0.09 | 0.0 | 2 | 0.82 | 0 |
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 |
|---|---|---|---|---|---|
| 32164657 | 2020 | 1 | 1 | None | AF |
| 25786344 | 2015 | 1 | 1 | None | None |
| 24144883 | 2014 | 1 | 1 | None | Early onset AF |
| Literature, cohort, and gnomAD | – | 7 | 7 | 0 | – |
| Variant features alone | – | 15 | 10 | 0 | – |
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 |
|---|---|---|
| 670 | 0 | R670K, |
| 669 | 4 | R669S, R669S, R669T, |
| 671 | 4 | G671S, |
| 668 | 5 | |
| 672 | 5 | |
| 667 | 7 | V667M |
| 673 | 7 | D673N, |
| 666 | 8 | |
| 674 | 8 | E674K, |
| 665 | 8 | |
| 675 | 8 | |
| 664 | 9 | |
| 663 | 10 | E663K, |
| 662 | 11 | |
| 661 | 11 | |
| 660 | 12 | P660S, |
| 659 | 13 | |
| 658 | 13 | T658N, |
| 657 | 14 | N657S, |
| 656 | 14 | |
| 655 | 15 |