KCNQ1 Variant A383D
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A383D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
60%
6/10 effective observations
Total carriers
0
0 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 6 individuals with LQT1 and 4 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -5.71 | 1.0 | 0 | 0.826 | 63 |
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 | – | 0 | 0 | 0 | – |
| Variant features alone | – | 15 | 4 | 6 | – |
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 |
|---|---|---|
| 383 | 0 | |
| 384 | 4 | |
| 382 | 5 | |
| 386 | 5 | N386K, N386K, |
| 379 | 5 | W379R, W379R, W379C, W379C, W379G, |
| 391 | 6 | T391A, T391I, |
| 389 | 6 | S389P, |
| 385 | 6 | E385K, |
| 381 | 6 | C381Y, |
| 392 | 7 | W392R, W392R, W392ins |
| 518 | 7 | R518Q, R518G, |
| 387 | 7 | P387T, |
| 380 | 8 | R380S, R380S, R380G, |
| 378 | 8 | A378T, |
| 390 | 8 | |
| 515 | 9 | |
| 388 | 9 | D388H, D388N, |
| 377 | 10 | |
| 514 | 11 | I514T, |
| 511 | 11 | R511Q, R511W, |
| 519 | 12 | R519H, R519C, |
| 376 | 12 | |
| 393 | 12 | K393N, |
| 522 | 12 | Y522S, |
| 512 | 13 | |
| 375 | 13 | |
| 521 | 13 | |
| 516 | 13 | |
| 517 | 13 | I517T, |
| 394 | 14 | I394L, |
| 513 | 14 | T513A, T513S, T513S, |
| 374 | 14 | L374H, L374F, |
| 510 | 14 | H510R, H510Y, |