KCNQ1 Variant F339C
Summary of observed carriers, functional annotations, and structural context for KCNQ1 F339C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
70%
7/10 effective observations
Total carriers
0
0 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 (%) |
|---|---|---|---|---|
| -7.43 | 1.0 | 3 | 0.946 | 77 |
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 | 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 |
|---|---|---|
| 271 | 10 | |
| 250 | 11 | L250H, L250P, |
| 266 | 12 | L266P, |
| 247 | 12 | T247I, |
| 262 | 12 | L262P, L262R, L262V, |
| 248 | 12 | W248C, W248C, W248R, W248R |
| 276 | 13 | S276del, |
| 255 | 13 | |
| 274 | 13 | I274V, |
| 275 | 13 | F275del, |
| 270 | 14 | F270S, |
| 254 | 14 | V254M, V254L, V254L, |
| 252 | 14 | G252R, |
| 263 | 14 | |
| 339 | 15 | F339del, F339S, |
| 341 | 15 | A341V, A341E, |
| 258 | 15 | H258P, H258N, H258R, H258Y, |
| 334 | 15 | V334A, |