KCNQ1 Variant W392ins
Summary of observed carriers, functional annotations, and structural context for KCNQ1 W392ins. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
61%
6/11 effective observations
Total carriers
1
1 LQT1 · 0 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 (%) |
|---|---|---|---|---|
| 79 |
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 | 0 | 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 |
|---|---|---|
| 392 | 0 | W392R, W392R, W392ins |
| 391 | 5 | T391A, T391I, |
| 387 | 6 | P387T, |
| 389 | 6 | S389P, |
| 511 | 6 | R511Q, R511W, |
| 384 | 6 | |
| 383 | 7 | |
| 514 | 7 | I514T, |
| 518 | 7 | R518Q, R518G, |
| 386 | 7 | N386K, N386K, |
| 393 | 8 | K393N, |
| 390 | 8 | |
| 388 | 8 | D388H, D388N, |
| 510 | 9 | H510R, H510Y, |
| 515 | 9 | |
| 394 | 9 | I394L, |
| 385 | 9 | E385K, |
| 380 | 10 | R380S, R380S, R380G, |
| 512 | 10 | |
| 381 | 10 | C381Y, |
| 508 | 10 | E508G, |
| 513 | 11 | T513A, T513S, T513S, |
| 379 | 11 | W379R, W379R, W379C, W379C, W379G, |
| 382 | 11 | |
| 517 | 12 | I517T, |
| 516 | 12 | |
| 377 | 13 | |
| 378 | 14 | A378T, |
| 509 | 14 | H509Q, H509Q, H509R, |
| 521 | 14 | |
| 519 | 14 | R519H, R519C, |