KCNQ1 Variant I588F
Summary of observed carriers, functional annotations, and structural context for KCNQ1 I588F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
51%
6/12 effective observations
Total carriers
2
1 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 (%) |
|---|---|---|---|---|
| -2.94 | 0.992 | -1 | 0.76 | 52 |
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 |
| 27041150 | 2016 | 2 | 1 | None | None |
| Literature, cohort, and gnomAD | – | 2 | 1 | 1 | – |
| 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 |
|---|---|---|
| 588 | 0 | I588F, |
| 587 | 4 | T587M, T587R, |
| 589 | 4 | G589D, G589S, |
| 586 | 5 | N586D, |
| 590 | 5 | A590T, |
| 585 | 7 | S585N, |
| 591 | 7 | R591H, R591C, R591L, |
| 584 | 8 | G584S, |
| 592 | 8 | |
| 583 | 8 | R583H, R583C, R583G, |
| 593 | 8 | N593S, |
| 582 | 9 | |
| 594 | 9 | R594Q, R594P, |
| 581 | 10 | |
| 595 | 10 | V595L, V595L |
| 580 | 11 | S580G, S580N, |
| 596 | 11 | E596del, E596K, |
| 579 | 11 | |
| 597 | 11 | |
| 578 | 12 | E578K, E578V, |
| 598 | 12 | K598R, |
| 577 | 13 | |
| 599 | 13 | |
| 576 | 13 | V576I, |
| 600 | 13 | T600M, |
| 575 | 14 | |
| 601 | 14 | |
| 574 | 14 | I574V, |
| 602 | 14 | |
| 573 | 15 | F573L, F573L, F573L, |
| 603 | 15 |