KCNQ1 Variant Y315F
Summary of observed carriers, functional annotations, and structural context for KCNQ1 Y315F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
84%
9/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 8 individuals with LQT1 and 2 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -3.73 | 1.0 | 3 | 0.956 | 95 |
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 |
|---|---|---|---|---|---|
| 22949429 | 2012 | 1 | None | 1 | None |
| 19841300 | 2009 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| Variant features alone | – | 15 | 2 | 8 | – |
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 |
|---|---|---|
| 314 | 7 | G314S, G314D, G314C, G314del, |
| 315 | 9 | Y315C, Y315S, Y315N, Y315H, Y315F |
| 316 | 9 | G316E, G316R, G316R, G316V, |
| 313 | 10 | |
| 308 | 11 | V308F, |
| 312 | 11 | T312del, T312I, |
| 319 | 12 | V319L, V319L, |
| 309 | 12 | T309I, T309R, |
| 317 | 12 | D317N, D317G, D317Y, |
| 305 | 12 | W305S, W305L, W305C, W305C, W305R, W305R, |
| 311 | 14 | T311A, T311I, |
| 318 | 14 | |
| 320 | 14 | P320H, P320A, P320S, |
| 304 | 15 | W304R, W304R, |
| 310 | 15 | V310I, |
| 306 | 15 | G306V, G306R, G306R, |