KCNQ1 Variant L353P
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L353P. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
88%
15/18 effective observations
Total carriers
8
8 LQT1 · 0 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 (%) |
|---|---|---|---|---|
| -6.62 | 0.996 | -3 | 0.968 | 92 |
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 | 2 | None | 2 | None |
| 27041096 | 2016 | 2 | None | 2 | None |
| 22949429 | 2012 | 1 | None | 1 | None |
| 19841300 | 2009 | 1 | None | 1 | None |
| 19490272 | 2009 | 4 | None | 4 | None |
| 17470695 | 2007 | 4 | None | 4 | None |
| Literature, cohort, and gnomAD | – | 8 | 0 | 8 | – |
| 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 |
|---|---|---|
| 353 | 8 | L353P, |
| 352 | 9 | |
| 349 | 9 | S349W, |
| 356 | 10 | |
| 350 | 10 | G350V, G350R, G350R, G350W, |
| 348 | 11 | |
| 355 | 12 | |
| 357 | 12 | Q357H, Q357H, |
| 345 | 13 | G345R, G345R, G345A, |
| 354 | 13 | |
| 351 | 13 | F351L, F351L, F351L, F351S, |
| 346 | 13 | |
| 359 | 14 | Q359del, |
| 360 | 14 | R360ins, R360G, R360M, |
| 258 | 14 | H258P, H258N, H258R, H258Y, |
| 347 | 14 | L347P, L347R |