KCNQ1 Variant F364L
Summary of observed carriers, functional annotations, and structural context for KCNQ1 F364L. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
54%
5/11 effective observations
Total carriers
1
0 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 (%) |
|---|---|---|---|---|
| -4.5 | 0.809 | 0 | 0.883 | 61 |
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 | 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 |
|---|---|---|
| 364 | 0 | F364L, F364L, F364L, F364S, |
| 365 | 4 | N365H, |
| 363 | 4 | H363N, |
| 367 | 6 | Q367H, Q367H |
| 368 | 7 | |
| 366 | 8 | R366W, R366Q, |
| 362 | 9 | K362R, K362del, |
| 361 | 10 | |
| 369 | 10 | |
| 532 | 10 | |
| 533 | 11 | R533W, R533Q, |
| 371 | 11 | A371T, |
| 370 | 11 | A370V, |
| 529 | 12 | |
| 372 | 13 | |
| 535 | 14 | |
| 358 | 15 | K358T, |