KCNQ1 Variant Y267C
Summary of observed carriers, functional annotations, and structural context for KCNQ1 Y267C. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
33%
3/11 effective observations
Total carriers
1
0 LQT1 · 1 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 3 individuals with LQT1 and 7 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -8.75 | 1.0 | -3 | 0.9 | 39 |
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 | 7 | 3 | – |
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 |
|---|---|---|
| 267 | 0 | Y267C |
| 268 | 5 | I268V, I268S, |
| 271 | 5 | |
| 247 | 6 | T247I, |
| 264 | 6 | |
| 269 | 7 | G269D, G269S, G269del, |
| 270 | 7 | F270S, |
| 266 | 7 | L266P, |
| 242 | 7 | D242N, D242Y, |
| 238 | 7 | M238V, M238L, M238L, |
| 248 | 8 | W248C, W248C, W248R, W248R, |
| 265 | 8 | T265I, |
| 241 | 8 | V241F, V241I, V241G, |
| 263 | 8 | |
| 239 | 8 | |
| 272 | 9 | G272D, G272S, G272V, |
| 130 | 10 | |
| 246 | 10 | |
| 274 | 10 | I274V, |
| 245 | 10 | G245V, |
| 273 | 11 | L273F, L273V, L273R, |
| 275 | 11 | F275del, |
| 340 | 11 | F340del, F340L, F340L, F340L, F340S, |
| 240 | 11 | H240R, H240P, |
| 250 | 11 | L250H, L250P, |
| 134 | 12 | L134P, |
| 235 | 12 | I235N, |
| 243 | 12 | R243H, R243C, R243P, R243S, |
| 261 | 12 | E261K, E261D, E261D, E261G, E261Q, |
| 133 | 13 | V133I, |
| 236 | 13 | L236Q, L236R, |
| 260 | 13 | |
| 249 | 13 | R249S, R249S, |
| 137 | 14 | L137F, L137P, |
| 198 | 14 | I198V, I198T, |
| 127 | 14 | F127L, F127L, F127L, |
| 259 | 14 | R259C, R259H, R259L, R259G, |
| 131 | 14 | |
| 244 | 14 | |
| 126 | 14 | H126D, |
| 237 | 14 | |
| 276 | 15 | S276del, |
| 129 | 15 | V129I, |
| 310 | 15 | V310I, |
| 201 | 15 | I201del, |