KCNQ1 Variant L266P
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L266P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
85%
49/58 effective observations
Total carriers
48
45 LQT1 · 3 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 4 individuals with LQT1 and 6 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -6.7 | 0.999 | -4 | 0.941 | 63 |
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 | 4 | None | 4 | None |
| 27000522 | 2017 | 4 | None | 4 | None |
| 23631430 | 2013 | 7 | None | None | None |
| 23153844 | 2012 | 32 | None | 1 | None |
| 22949429 | 2012 | 5 | None | 5 | None |
| 21131640 | 2011 | 1 | None | 1 | None |
| 19841300 | 2009 | 5 | None | 5 | None |
| 19817925 | 2010 | 23 | 3 | 6 | None |
| 19716085 | 2009 | 30 | None | 30 | None |
| 19490272 | 2009 | 22 | None | 22 | None |
| 17470695 | 2007 | 15 | None | 15 | None |
| 14678125 | 2003 | 6 | None | 6 | None |
| Literature, cohort, and gnomAD | – | 48 | 3 | 45 | – |
| Variant features alone | – | 15 | 6 | 4 | – |
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 |
|---|---|---|
| 263 | 6 | |
| 339 | 11 | F339del, F339S, |
| 259 | 11 | R259C, R259H, R259L, R259G, |
| 260 | 12 | |
| 334 | 12 | V334A |
| 335 | 12 | F335L, F335L, F335L, |
| 336 | 12 | A336S, |
| 274 | 12 | I274V, |
| 251 | 12 | L251P, L251Q, |
| 266 | 13 | L266P, |
| 265 | 13 | T265I, |
| 269 | 13 | G269D, G269S, G269del, |
| 347 | 13 | L347P, L347R, |
| 238 | 13 | M238V, M238L, M238L, |
| 242 | 14 | D242N, D242Y, |
| 268 | 14 | I268V, I268S, |
| 246 | 14 | |
| 333 | 14 | |
| 351 | 14 | F351L, F351L, F351L, F351S, |
| 241 | 14 | V241F, V241I, V241G, |
| 338 | 14 | S338F, |
| 247 | 14 | T247I, |
| 239 | 15 | |
| 255 | 15 | |
| 250 | 15 | L250H, L250P, |
| 130 | 15 | |
| 310 | 15 | V310I, |