KCNQ1 Variant T247I
Summary of observed carriers, functional annotations, and structural context for KCNQ1 T247I. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
80%
8/11 effective observations
Total carriers
1
1 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 (%) |
|---|---|---|---|---|
| -5.83 | 0.991 | -2 | 0.838 | 85 |
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 |
|---|---|---|---|---|---|
| 32893267 | 2020 | 1 | None | 1 | None |
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | – |
| 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 |
|---|---|---|
| 247 | 0 | T247I, |
| 246 | 4 | |
| 248 | 5 | W248C, W248C, W248R, W248R, |
| 264 | 5 | |
| 242 | 5 | D242N, D242Y, |
| 245 | 5 | G245V, |
| 250 | 6 | L250H, L250P, |
| 267 | 6 | Y267C |
| 268 | 7 | I268V, I268S, |
| 251 | 7 | L251P, L251Q, |
| 249 | 7 | R249S, R249S, |
| 265 | 8 | T265I, |
| 241 | 9 | V241F, V241I, V241G, |
| 260 | 9 | |
| 261 | 9 | E261K, E261D, E261D, E261G, E261Q, |
| 244 | 10 | |
| 243 | 10 | R243H, R243C, R243P, R243S, |
| 239 | 10 | |
| 266 | 10 | L266P, |
| 271 | 10 | |
| 269 | 11 | G269D, G269S, G269del, |
| 198 | 12 | I198V, I198T, |
| 339 | 12 | F339del, F339S, |
| 351 | 12 | F351L, F351L, F351L, F351S, |
| 238 | 12 | M238V, M238L, M238L, |
| 270 | 13 | F270S, |
| 240 | 13 | H240R, H240P, |
| 130 | 13 | |
| 272 | 14 | G272D, G272S, G272V, |
| 117 | 14 | P117L, |
| 197 | 14 | P197L, |
| 342 | 14 | L342F, L342P, |
| 354 | 14 | |
| 196 | 14 | |
| 115 | 14 | E115A, E115G, |
| 252 | 14 | G252R, |
| 358 | 14 | K358T, |
| 126 | 15 | H126D, |
| 255 | 15 | |
| 116 | 15 | |
| 201 | 15 | I201del, |