KCNQ1 Variant L187F
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L187F. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
24%
2/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -0.75 | 0.0 | 0 | 0.522 | 30 |
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 | 1 | 0 | – |
| Variant features alone | – | 15 | 8 | 2 | – |
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 |
|---|---|---|
| 187 | 0 | L187P, L187F, |
| 186 | 5 | G186R, G186D, |
| 191 | 5 | |
| 190 | 6 | R190W, R190Q, R190L, |
| 189 | 6 | G189R, G189R, G189E, |
| 188 | 6 | W188C, W188C, W188G, W188S, |
| 185 | 8 | V185L, V185L, V185M, V185del, |
| 192 | 9 | R192C, R192H, |
| 175 | 10 | L175I, |
| 194 | 10 | A194P, A194T, |
| 184 | 10 | Y184S, Y184C, Y184D, Y184H |
| 193 | 11 | F193L, F193L, F193L, |
| 195 | 11 | R195Q, R195W, |
| 178 | 11 | A178T, A178del, |
| 179 | 11 | G179S, |
| 176 | 13 | |
| 183 | 13 | K183R, |
| 182 | 13 | |
| 177 | 14 | S177F, |
| 172 | 14 | V172M, V172E, |
| 171 | 14 | |
| 181 | 15 | R181C, |
| 180 | 15 | |
| 199 | 15 | S199A, |