KCNQ1 Variant F340del
Summary of observed carriers, functional annotations, and structural context for KCNQ1 F340del. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
83%
15/19 effective observations
Total carriers
9
8 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| 69 |
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 | 6 | None | 6 | None |
| 30758498 | 2019 | 5 | None | 2 | None |
| 24606995 | 2014 | 1 | None | 1 | None |
| 16922724 | 2006 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 9 | 1 | 8 | – |
| Variant features alone | – | 15 | 3 | 7 | – |
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 |
|---|---|---|
| 340 | 8 | F340del, F340L, F340L, F340L, F340S, |
| 337 | 9 | |
| 341 | 9 | A341V, A341E, |
| 338 | 10 | S338F, |
| 335 | 10 | F335L, F335L, F335L, |
| 336 | 10 | A336S, |
| 310 | 11 | V310I, |
| 312 | 11 | T312del, T312I, |
| 311 | 11 | T311A, T311I, |
| 339 | 11 | F339del, F339S, |
| 267 | 11 | Y267C |
| 269 | 12 | G269D, G269S, G269del, |
| 342 | 12 | L342F, L342P, |
| 334 | 12 | V334A, |
| 274 | 12 | I274V, |
| 343 | 12 | P343S, P343L, P343R, |
| 333 | 12 | |
| 272 | 12 | G272D, G272S, G272V, |
| 344 | 13 | A344V, A344E, |
| 266 | 13 | L266P, |
| 265 | 13 | T265I, |
| 309 | 13 | T309I, T309R, |
| 332 | 13 | |
| 307 | 13 | V307L, V307L, |
| 270 | 13 | F270S, |
| 268 | 13 | I268V, I268S, |
| 330 | 14 | |
| 273 | 14 | L273F, L273V, L273R, |
| 345 | 14 | G345R, G345R, G345A, |
| 303 | 14 | L303P, |
| 313 | 14 | |
| 306 | 14 | G306V, G306R, G306R, |
| 329 | 14 | A329T, |
| 331 | 14 | |
| 276 | 14 | S276del, |
| 308 | 15 | V308F, |
| 271 | 15 |