KCNQ1 Variant A287S
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A287S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
28%
3/12 effective observations
Total carriers
2
1 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -1.62 | 0.787 | 0 | 0.762 | 28 |
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 |
|---|---|---|---|---|---|
| 32893267 | 2020 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 2 | 1 | 1 | – |
| Variant features alone | – | 15 | 8 | 2 | – |
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 |
|---|---|---|
| 287 | 0 | A287E, A287T, A287S, |
| 288 | 4 | |
| 286 | 5 | |
| 284 | 5 | E284K, |
| 285 | 7 | |
| 322 | 7 | T322M, T322A, T322K, |
| 283 | 7 | A283G, A283T, |
| 281 | 9 | Y281C |
| 320 | 10 | P320H, P320A, P320S, |
| 280 | 10 | V280A, V280E, |
| 282 | 11 | L282P, |
| 325 | 11 | G325R, G325R, G325E, G325W, |
| 324 | 11 | |
| 323 | 12 | |
| 293 | 14 | R293C, R293H, |
| 328 | 14 | I328del, |
| 299 | 14 | |
| 228 | 15 | |
| 279 | 15 | F279I, |
| 277 | 15 | S277L, S277del, S277P, S277W, |
| 321 | 15 | |
| 144 | 15 | T144A, |
| 317 | 15 | D317N, D317G, D317Y, |
| 295 | 15 | |
| 294 | 15 | V294M, |