KCNQ1 Variant T312del
Summary of observed carriers, functional annotations, and structural context for KCNQ1 T312del. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
83%
11/14 effective observations
Total carriers
4
4 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 (%) |
|---|---|---|---|---|
| 92 |
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 |
| 30008122 | 2019 | 3 | None | 3 | None |
| Literature, cohort, and gnomAD | – | 4 | 0 | 4 | – |
| 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 |
|---|---|---|
| 312 | 5 | T312del, T312I, |
| 313 | 8 | |
| 314 | 8 | G314S, G314D, G314C, G314del, |
| 337 | 9 | |
| 311 | 9 | T311A, T311I, |
| 309 | 10 | T309I, T309R, |
| 310 | 10 | V310I, |
| 308 | 11 | V308F, |
| 341 | 11 | A341V, A341E, |
| 333 | 11 | |
| 315 | 12 | Y315C, Y315S, Y315N, Y315H, Y315F |
| 334 | 12 | V334A, |
| 338 | 12 | S338F, |
| 340 | 13 | F340del, F340L, F340L, F340L, F340S, |
| 336 | 13 | A336S, |
| 307 | 14 | V307L, V307L, |
| 316 | 14 | G316E, G316R, G316R, G316V, |
| 306 | 14 | G306V, G306R, G306R, |
| 305 | 14 | W305S, W305L, W305C, W305C, W305R, W305R, |
| 330 | 14 | |
| 344 | 15 | A344V, A344E, |
| 329 | 15 | A329T, |