KCNQ1 Variant H442R
Summary of observed carriers, functional annotations, and structural context for KCNQ1 H442R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
9%
1/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -0.79 | 0.004 | -1 | 0.606 | 2 |
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 | 9 | 1 | – |
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 |
|---|---|---|
| 442 | 0 | H442R, |
| 441 | 4 | P441S, |
| 443 | 4 | |
| 440 | 5 | |
| 444 | 5 | T444M, T444K |
| 439 | 7 | |
| 445 | 7 | |
| 438 | 8 | |
| 446 | 8 | D446E, D446E, D446E, D446E, D446N, |
| 437 | 8 | M437V, |
| 447 | 8 | P447H, |
| 436 | 9 | |
| 448 | 9 | P448R, P448Q, P448L, P448S, |
| 435 | 10 | |
| 449 | 10 | E449K, |
| 434 | 11 | G434R, G434R, |
| 450 | 11 | E450K, |
| 433 | 11 | P433A, |
| 451 | 11 | R451Q, R451W, |
| 432 | 12 | T432I, T432A, |
| 452 | 12 | R452Q, R452W, R452L, |
| 431 | 13 | V431L, V431L, |
| 453 | 13 | |
| 430 | 13 | |
| 454 | 13 | |
| 429 | 14 | N429S, |
| 455 | 14 | H455Y, H455Q, H455Q, H455R, |
| 428 | 14 | D428G, |
| 456 | 14 | F456L, F456L, F456L, |
| 427 | 15 | |
| 457 | 15 |