KCNQ1 Variant L273R
Summary of observed carriers, functional annotations, and structural context for KCNQ1 L273R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
64%
7/11 effective observations
Total carriers
1
1 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 6 individuals with LQT1 and 4 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -5.83 | 1.0 | -3 | 0.974 | 67 |
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 | 4 | 6 | – |
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 |
|---|---|---|
| 273 | 0 | L273F, L273V, L273R, |
| 274 | 4 | I274V, |
| 277 | 6 | S277L, S277del, S277P, S277W, |
| 269 | 6 | G269D, G269S, G269del, |
| 303 | 7 | L303P, |
| 271 | 7 | |
| 275 | 7 | F275del, |
| 302 | 9 | A302V, A302E, A302T, |
| 299 | 10 | |
| 268 | 10 | I268V, I268S, |
| 278 | 10 | Y278H, |
| 235 | 10 | I235N, |
| 267 | 11 | Y267C, |
| 238 | 11 | M238V, M238L, M238L, |
| 300 | 11 | A300T, A300S, |
| 333 | 12 | |
| 330 | 12 | |
| 334 | 12 | V334A, |
| 265 | 13 | T265I, |
| 137 | 13 | L137F, L137P, |
| 329 | 13 | A329T, |
| 301 | 13 | |
| 331 | 13 | |
| 336 | 13 | A336S, |
| 281 | 13 | Y281C |
| 239 | 13 | |
| 332 | 13 | |
| 335 | 13 | F335L, F335L, F335L, |
| 307 | 14 | V307L, V307L, |
| 232 | 14 | |
| 141 | 14 | V141M, |
| 236 | 14 | L236Q, L236R, |
| 296 | 14 | F296S, F296L, F296L, F296L, |
| 276 | 14 | S276del, |
| 134 | 14 | L134P, |
| 282 | 14 | L282P, |
| 318 | 14 | |
| 298 | 15 | S298I, S298N, |
| 272 | 15 | G272D, G272S, G272V, |
| 328 | 15 | I328del, |
| 327 | 15 | T327A, T327S, T327S, |
| 338 | 15 | S338F, |
| 234 | 15 | Q234H, Q234H, |