KCNQ1 Variant A372D
Summary of observed carriers, functional annotations, and structural context for KCNQ1 A372D. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT1 penetrance
55%
5/10 effective observations
Total carriers
0
0 LQT1 · 0 unaffected
Functional studies
0
Publications with functional data
Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density LQT1 (%) |
|---|---|---|---|---|
| -5.44 | 1.0 | 0 | 0.954 | 60 |
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 | 5 | 5 | – |
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 |
|---|---|---|
| 372 | 0 | |
| 371 | 4 | A371T, |
| 373 | 4 | S373P, |
| 375 | 5 | |
| 376 | 5 | |
| 370 | 5 | A370V, |
| 369 | 6 | |
| 374 | 6 | L374H, L374F, |
| 368 | 7 | |
| 377 | 8 | |
| 525 | 8 | A525T, A525V, |
| 529 | 9 | |
| 378 | 10 | A378T, |
| 367 | 10 | Q367H, Q367H, |
| 528 | 11 | |
| 380 | 11 | R380S, R380S, R380G, |
| 522 | 11 | Y522S, |
| 379 | 12 | W379R, W379R, W379C, W379C, W379G |
| 526 | 12 | K526Q, K526E, |
| 532 | 12 | |
| 524 | 12 | V524G, |
| 521 | 12 | |
| 365 | 12 | N365H, |
| 530 | 13 | |
| 533 | 13 | R533W, R533Q, |
| 364 | 13 | F364L, F364L, F364L, F364S, |
| 381 | 14 | C381Y, |
| 366 | 14 | R366W, R366Q, |
| 527 | 14 | |
| 523 | 14 | |
| 518 | 15 | R518Q, R518G, |
| 531 | 15 |