KCNQ1 Variant G671S
Summary of observed carriers, functional annotations, and structural context for KCNQ1 G671S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
9%
1/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| 0.15 | 0.437 | 0 | 0.513 | 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 |
|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 1 | 1 | 0 | – |
| Variant features alone | – | 15 | 9 | 1 | – |
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 |
|---|---|---|
| 671 | 0 | G671S, |
| 670 | 4 | R670K, |
| 672 | 4 | |
| 669 | 5 | R669S, R669S, R669T, |
| 673 | 5 | D673N, |
| 668 | 7 | |
| 674 | 7 | E674K, |
| 667 | 8 | V667M |
| 675 | 8 | |
| 666 | 8 | |
| 665 | 9 | |
| 664 | 10 | |
| 663 | 11 | E663K, |
| 662 | 11 | |
| 661 | 12 | |
| 660 | 13 | P660S, |
| 659 | 13 | |
| 658 | 14 | T658N, |
| 657 | 14 | N657S, |
| 656 | 15 |