KCNQ1 Variant P408A
Summary of observed carriers, functional annotations, and structural context for KCNQ1 P408A. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
0%
0/470 effective observations
Total carriers
460
0 LQT1 · 460 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| 24 |
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 |
|---|---|---|---|---|---|
| 29197658 | 2018 | 4 | None | 4 | None |
| 22949429 | 2012 | 9 | 9 | None | None |
| 19841300 | 2009 | 9 | 9 | None | None |
| Literature, cohort, and gnomAD | – | 460 | 460 | 0 | – |
| Variant features alone | – | 15 | 10 | 0 | – |
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 |
|---|---|---|
| 408 | 0 | P408A, |
| 407 | 4 | |
| 409 | 4 | |
| 406 | 5 | |
| 410 | 5 | |
| 405 | 7 | |
| 411 | 7 | |
| 404 | 8 | |
| 412 | 8 | P412S, |
| 403 | 8 | H403P, |
| 413 | 8 | K413R, |
| 402 | 9 | |
| 414 | 9 | |
| 401 | 10 | R401W, R401Q, |
| 415 | 10 | |
| 400 | 11 | |
| 416 | 11 | V416M, |
| 399 | 11 | A399S, A399V, A399G, |
| 417 | 11 | V417M, |
| 398 | 12 | K398R, |
| 418 | 12 | V418I, |
| 397 | 13 | R397W, R397Q, R397G |
| 419 | 13 | |
| 396 | 13 | |
| 420 | 13 | K420E, K420N, K420N, |
| 395 | 14 | Y395C, |
| 421 | 14 | K421N, K421N, |
| 394 | 14 | I394L, |
| 422 | 14 | K422T, K422R, |
| 393 | 15 | K393N, |
| 423 | 15 |