KCNQ1 Variant A371S
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A371S. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
65%
6/10 effective observations
Total carriers
0
0 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 (%) |
|---|---|---|---|---|
| -2.82 | 0.999 | -1 | 0.855 | 70 |
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 | – | 0 | 0 | 0 | – |
| 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 |
|---|---|---|
| 371 | 0 | A371T, |
| 372 | 4 | |
| 370 | 4 | A370V, |
| 374 | 5 | L374H, L374F, |
| 373 | 5 | S373P, |
| 529 | 5 | |
| 369 | 6 | |
| 375 | 6 | |
| 368 | 6 | |
| 367 | 7 | Q367H, Q367H, |
| 525 | 8 | A525T, A525V, |
| 376 | 8 | |
| 532 | 9 | |
| 528 | 9 | |
| 377 | 10 | |
| 533 | 10 | R533W, R533Q, |
| 526 | 10 | K526Q, K526E, |
| 530 | 10 | |
| 378 | 11 | A378T, |
| 522 | 11 | Y522S, |
| 365 | 11 | N365H, |
| 364 | 11 | F364L, F364L, F364L, F364S, |
| 524 | 12 | V524G, |
| 366 | 12 | R366W, R366Q, |
| 527 | 12 | |
| 531 | 12 | |
| 380 | 13 | R380S, R380S, R380G, |
| 521 | 13 | |
| 362 | 13 | K362R, K362del, |
| 534 | 14 | |
| 363 | 14 | H363N, |
| 379 | 14 | W379R, W379R, W379C, W379C, W379G |
| 523 | 14 | |
| 381 | 15 | C381Y, |