KCNQ1 Variant A329T
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A329T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
54%
7/13 effective observations
Total carriers
3
0 LQT1 · 3 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 (%) |
|---|---|---|---|---|
| -3.55 | 1.0 | -1 | 0.906 | 71 |
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 | – | 3 | 3 | 0 | – |
| 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 |
|---|---|---|
| 328 | 4 | I328del, |
| 331 | 6 | |
| 325 | 6 | G325R, G325R, G325E, G325W, |
| 327 | 6 | T327A, T327S, T327S, |
| 324 | 9 | |
| 279 | 9 | F279I, |
| 307 | 10 | V307L, V307L, |
| 322 | 10 | T322M, T322A, T322K, |
| 304 | 11 | W304R, W304R, |
| 306 | 11 | G306V, G306R, G306R, |
| 283 | 11 | A283G, A283T, |
| 284 | 11 | E284K, |
| 323 | 11 | |
| 305 | 11 | W305S, W305L, W305C, W305C, W305R, W305R |
| 310 | 11 | V310I, |
| 321 | 12 | |
| 278 | 12 | Y278H, |
| 330 | 12 | |
| 282 | 13 | L282P, |
| 303 | 13 | L303P, |
| 273 | 13 | L273F, L273V, L273R, |
| 302 | 13 | A302V, A302E, A302T, |
| 277 | 14 | S277L, S277del, S277P, S277W, |
| 309 | 14 | T309I, T309R, |
| 340 | 14 | F340del, F340L, F340L, F340L, F340S, |
| 318 | 14 | |
| 276 | 14 | S276del, |
| 313 | 14 | |
| 326 | 14 | |
| 301 | 14 | |
| 300 | 14 | A300T, A300S, |
| 317 | 14 | D317N, D317G, D317Y, |
| 270 | 15 | F270S, |
| 334 | 15 | V334A, |
| 336 | 15 | A336S, |