KCNQ1 Variant G252V
Summary of observed carriers, functional annotations, and structural context for KCNQ1 G252V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
28%
2/10 effective observations
Total carriers
0
0 LQT1 · 0 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 (%) |
|---|---|---|---|---|
| -8.75 | 1.0 | 1 | 0.909 | 31 |
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 | 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 |
|---|---|---|
| 252 | 0 | G252R, |
| 253 | 3 | S253A, S253P, |
| 251 | 5 | L251P, L251Q, |
| 254 | 5 | V254M, V254L, V254L, |
| 256 | 7 | |
| 249 | 7 | R249S, R249S, |
| 248 | 9 | W248C, W248C, W248R, W248R |
| 246 | 10 | |
| 245 | 10 | G245V, |
| 268 | 10 | I268V, I268S, |
| 339 | 11 | F339del, F339S, |
| 261 | 13 | E261K, E261D, E261D, E261G, E261Q, |
| 335 | 13 | F335L, F335L, F335L, |
| 338 | 13 | S338F, |
| 242 | 13 | D242N, D242Y, |
| 264 | 13 | |
| 262 | 13 | L262P, L262R, L262V, |
| 265 | 13 | T265I, |
| 269 | 14 | G269D, G269S, G269del, |
| 258 | 14 | H258P, H258N, H258R, H258Y, |
| 260 | 14 | |
| 346 | 14 | |
| 255 | 14 | |
| 342 | 14 | L342F, L342P, |
| 263 | 14 | |
| 351 | 14 | F351L, F351L, F351L, F351S, |
| 197 | 15 | P197L, |
| 244 | 15 | |
| 343 | 15 | P343S, P343L, P343R, |
| 259 | 15 | R259C, R259H, R259L, R259G, |
| 355 | 15 | |
| 352 | 15 | |
| 336 | 15 | A336S, |
| 271 | 15 |