KCNQ1 Variant G325W
Summary of observed carriers, functional annotations, and structural context for KCNQ1 G325W. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
80%
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 (%) |
|---|---|---|---|---|
| -7.58 | 1.0 | -4 | 0.974 | 88 |
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 | – | 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 |
|---|---|---|
| 325 | 0 | G325R, G325R, G325E, G325W, |
| 324 | 4 | |
| 328 | 4 | I328del, |
| 322 | 5 | T322M, T322A, T322K, |
| 327 | 5 | T327A, T327S, T327S, |
| 320 | 6 | P320H, P320A, P320S, |
| 329 | 6 | A329T, |
| 283 | 6 | A283G, A283T, |
| 284 | 7 | E284K, |
| 323 | 7 | |
| 321 | 8 | |
| 330 | 8 | |
| 279 | 8 | F279I, |
| 282 | 9 | L282P, |
| 331 | 9 | |
| 332 | 10 | |
| 287 | 11 | A287E, A287T, A287S, |
| 333 | 11 | |
| 278 | 11 | Y278H, |
| 304 | 11 | W304R, W304R, |
| 285 | 12 | |
| 286 | 12 | |
| 305 | 13 | W305S, W305L, W305C, W305C, W305R, W305R |
| 308 | 13 | V308F, |
| 301 | 13 | |
| 307 | 13 | V307L, V307L, |
| 318 | 14 | |
| 302 | 14 | A302V, A302E, A302T, |
| 300 | 14 | A300T, A300S, |
| 306 | 14 | G306V, G306R, G306R, |
| 288 | 14 | |
| 303 | 14 | L303P, |
| 326 | 14 | |
| 334 | 14 | V334A, |
| 275 | 14 | F275del, |
| 289 | 14 | |
| 317 | 14 | D317N, D317G, D317Y, |
| 272 | 15 | G272D, G272S, G272V, |
| 335 | 15 | F335L, F335L, F335L, |
| 296 | 15 | F296S, F296L, F296L, F296L, |