KCNQ1 Variant G269del
Summary of observed carriers, functional annotations, and structural context for KCNQ1 G269del. 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 (%) |
|---|---|---|---|---|
| 73 |
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 |
|---|---|---|
| 269 | 0 | G269D, G269S, G269del, |
| 268 | 4 | I268V, I268S, |
| 272 | 5 | G272D, G272S, G272V, |
| 271 | 5 | |
| 273 | 6 | L273F, L273V, L273R, |
| 267 | 7 | Y267C |
| 274 | 8 | I274V, |
| 264 | 9 | |
| 275 | 10 | F275del, |
| 276 | 10 | S276del, |
| 306 | 11 | G306V, G306R, G306R, |
| 248 | 11 | W248C, W248C, W248R, W248R, |
| 247 | 11 | T247I, |
| 238 | 11 | M238V, M238L, M238L, |
| 334 | 11 | V334A, |
| 277 | 11 | S277L, S277del, S277P, S277W, |
| 239 | 12 | |
| 336 | 12 | A336S, |
| 335 | 12 | F335L, F335L, F335L, |
| 339 | 13 | F339del, F339S, |
| 303 | 13 | L303P, |
| 235 | 13 | I235N, |
| 333 | 13 | |
| 242 | 13 | D242N, D242Y, |
| 250 | 13 | L250H, L250P, |
| 261 | 14 | E261K, E261D, E261D, E261G, E261Q, |
| 251 | 14 | L251P, L251Q, |
| 266 | 14 | L266P, |
| 330 | 14 | |
| 279 | 14 | F279I, |
| 241 | 14 | V241F, V241I, V241G, |
| 331 | 14 | |
| 351 | 14 | F351L, F351L, F351L, F351S, |
| 278 | 14 | Y278H, |
| 332 | 14 | |
| 246 | 15 | |
| 236 | 15 | L236Q, L236R, |
| 347 | 15 | L347P, L347R, |
| 270 | 15 | F270S, |
| 245 | 15 | G245V, |