KCNQ1 Variant I517T
Summary of observed carriers, functional annotations, and structural context for KCNQ1 I517T. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
75%
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 (%) |
|---|---|---|---|---|
| -3.45 | 0.213 | -1 | 0.858 | 79 |
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 |
| 30758498 | 2019 | 3 | None | None | None |
| 17470695 | 2007 | 3 | None | 3 | None |
| 15028050 | 2004 | 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 |
|---|---|---|
| 517 | 0 | I517T, |
| 516 | 4 | |
| 520 | 5 | M520R, |
| 514 | 6 | I514T, |
| 521 | 6 | |
| 518 | 6 | R518Q, R518G, |
| 513 | 6 | T513A, T513S, T513S, |
| 515 | 8 | |
| 519 | 8 | R519H, R519C, |
| 512 | 9 | |
| 380 | 9 | R380S, R380S, R380G, |
| 381 | 10 | C381Y, |
| 523 | 10 | |
| 377 | 10 | |
| 524 | 11 | V524G, |
| 522 | 11 | Y522S, |
| 384 | 11 | |
| 510 | 11 | H510R, H510Y, |
| 392 | 12 | W392R, W392R, W392ins |
| 511 | 12 | R511Q, R511W, |
| 525 | 13 | A525T, A525V, |
| 394 | 13 | I394L, |
| 378 | 13 | A378T, |
| 383 | 13 | |
| 391 | 13 | T391A, T391I, |
| 509 | 14 | H509Q, H509Q, H509R, |
| 385 | 14 | E385K, |
| 376 | 14 | |
| 373 | 14 | S373P, |
| 374 | 15 | L374H, L374F, |
| 379 | 15 | W379R, W379R, W379C, W379C, W379G, |