KCNQ1 Variant S277W
Summary of observed carriers, functional annotations, and structural context for KCNQ1 S277W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
78%
8/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -6.8 | 1.0 | -4 | 0.979 | 85 |
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 |
| 17192539 | 2006 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| Variant features alone | – | 15 | 3 | 7 | – |
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 |
|---|---|---|
| 277 | 0 | S277L, S277del, S277P, S277W, |
| 276 | 4 | S276del, |
| 302 | 5 | A302V, A302E, A302T, |
| 303 | 5 | L303P, |
| 280 | 5 | V280A, V280E, |
| 273 | 6 | L273F, L273V, L273R, |
| 274 | 6 | I274V, |
| 299 | 6 | |
| 278 | 6 | Y278H, |
| 279 | 7 | F279I, |
| 275 | 7 | F275del, |
| 272 | 8 | G272D, G272S, G272V, |
| 281 | 8 | Y281C, |
| 300 | 9 | A300T, A300S, |
| 296 | 9 | F296S, F296L, F296L, F296L, |
| 282 | 9 | L282P, |
| 301 | 9 | |
| 235 | 10 | I235N, |
| 283 | 10 | A283G, A283T, |
| 298 | 10 | S298I, S298N, |
| 284 | 10 | E284K, |
| 271 | 10 | |
| 231 | 11 | R231C, R231H, R231S, |
| 270 | 11 | F270S, |
| 141 | 11 | V141M, |
| 232 | 11 | |
| 318 | 11 | |
| 269 | 11 | G269D, G269S, G269del, |
| 297 | 12 | G297S, G297D, G297R, |
| 137 | 12 | L137F, L137P, |
| 285 | 12 | |
| 144 | 12 | T144A, |
| 140 | 13 | S140G, S140R, S140R, S140R, |
| 295 | 13 | |
| 238 | 13 | M238V, M238L, M238L, |
| 330 | 13 | |
| 234 | 13 | Q234H, Q234H, |
| 329 | 13 | A329T, |
| 236 | 14 | L236Q, L236R, |
| 228 | 14 | |
| 229 | 14 | G229D, |
| 326 | 14 | |
| 327 | 14 | T327A, T327S, T327S, |
| 333 | 14 | |
| 307 | 15 | V307L, V307L, |
| 304 | 15 | W304R, W304R, |
| 138 | 15 | |
| 315 | 15 | Y315C, Y315S, Y315N, Y315H, Y315F |
| 268 | 15 | I268V, I268S, |
| 328 | 15 | I328del, |
| 313 | 15 | |
| 308 | 15 | V308F, |
| 331 | 15 | |
| 287 | 15 | A287E, A287T, A287S, |
| 145 | 15 | |
| 325 | 15 | G325R, G325R, G325E, G325W, |