KCNQ1 Variant D388A
Summary of observed carriers, functional annotations, and structural context for KCNQ1 D388A. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
15%
1/10 effective observations
Total carriers
0
0 LQT1 · 0 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 (%) |
|---|---|---|---|---|
| -1.21 | 0.191 | -1 | 0.674 | 11 |
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 | 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 |
|---|---|---|
| 388 | 0 | D388H, D388N, |
| 387 | 4 | P387T, |
| 389 | 5 | S389P, |
| 386 | 5 | N386K, N386K, |
| 392 | 8 | W392R, W392R, W392ins |
| 390 | 8 | |
| 391 | 9 | T391A, T391I, |
| 383 | 9 | |
| 384 | 10 | |
| 511 | 10 | R511Q, R511W, |
| 385 | 11 | E385K, |
| 393 | 12 | K393N, |
| 382 | 13 | |
| 508 | 13 | E508G, |
| 379 | 13 | W379R, W379R, W379C, W379C, W379G, |
| 510 | 14 | H510R, H510Y, |
| 514 | 14 | I514T, |
| 518 | 14 | R518Q, R518G, |
| 515 | 15 |