KCNQ1 Variant A283P
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A283P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
62%
6/10 effective observations
Total carriers
0
0 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 6 individuals with LQT1 and 4 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -4.64 | 0.981 | -3 | 0.964 | 67 |
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 | – | 0 | 0 | 0 | – |
| Variant features alone | – | 15 | 4 | 6 | – |
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 |
|---|---|---|
| 283 | 0 | A283G, A283T, |
| 284 | 4 | E284K, |
| 282 | 4 | L282P, |
| 280 | 6 | V280A, V280E, |
| 322 | 6 | T322M, T322A, T322K, |
| 324 | 6 | |
| 325 | 6 | G325R, G325R, G325E, G325W, |
| 285 | 7 | |
| 281 | 7 | Y281C |
| 286 | 7 | |
| 287 | 7 | A287E, A287T, A287S, |
| 279 | 8 | F279I, |
| 328 | 8 | I328del, |
| 296 | 8 | F296S, F296L, F296L, F296L, |
| 278 | 9 | Y278H, |
| 320 | 9 | P320H, P320A, P320S, |
| 323 | 9 | |
| 321 | 9 | |
| 327 | 10 | T327A, T327S, T327S, |
| 228 | 10 | |
| 277 | 10 | S277L, S277del, S277P, S277W, |
| 295 | 11 | |
| 276 | 11 | S276del, |
| 297 | 11 | G297S, G297D, G297R, |
| 329 | 11 | A329T, |
| 288 | 11 | |
| 299 | 12 | |
| 294 | 12 | V294M, |
| 319 | 12 | V319L, V319L, |
| 231 | 13 | R231C, R231H, R231S, |
| 332 | 13 | |
| 289 | 14 | |
| 227 | 14 | |
| 232 | 14 | |
| 275 | 14 | F275del, |
| 331 | 14 | |
| 229 | 14 | G229D, |
| 330 | 14 | |
| 144 | 14 | T144A, |
| 224 | 15 | T224M, |