KCNQ1 Variant I328del
Summary of observed carriers, functional annotations, and structural context for KCNQ1 I328del. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
61%
6/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| 74 |
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 | 0 | 1 | – |
| Variant features alone | – | 15 | 5 | 5 | – |
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 |
|---|---|---|
| 328 | 0 | I328del, |
| 325 | 4 | G325R, G325R, G325E, G325W, |
| 329 | 4 | A329T, |
| 327 | 5 | T327A, T327S, T327S, |
| 331 | 6 | |
| 332 | 6 | |
| 279 | 6 | F279I, |
| 324 | 6 | |
| 280 | 7 | V280A, V280E, |
| 283 | 8 | A283G, A283T, |
| 333 | 9 | |
| 320 | 9 | P320H, P320A, P320S, |
| 322 | 9 | T322M, T322A, T322K, |
| 323 | 9 | |
| 282 | 9 | L282P, |
| 278 | 9 | Y278H, |
| 284 | 10 | E284K, |
| 275 | 11 | F275del, |
| 335 | 11 | F335L, F335L, F335L, |
| 281 | 12 | Y281C |
| 319 | 12 | V319L, V319L, |
| 321 | 12 | |
| 307 | 13 | V307L, V307L, |
| 304 | 13 | W304R, W304R, |
| 306 | 13 | G306V, G306R, G306R, |
| 308 | 14 | V308F, |
| 232 | 14 | |
| 303 | 14 | L303P, |
| 285 | 14 | |
| 287 | 14 | A287E, A287T, A287S, |
| 305 | 14 | W305S, W305L, W305C, W305C, W305R, W305R, |
| 302 | 15 | A302V, A302E, A302T, |
| 309 | 15 | T309I, T309R, |
| 273 | 15 | L273F, L273V, L273R, |
| 277 | 15 | S277L, S277del, S277P, S277W, |
| 311 | 15 | T311A, T311I, |
| 330 | 15 | |
| 310 | 15 | V310I, |