KCNQ1 Variant T432A

Summary of observed carriers, functional annotations, and structural context for KCNQ1 T432A. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

10%

1/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

T432A is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 1 individuals with LQT1 and 9 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.99 0.002 -1 0.478 1

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

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT1 Other Disease
Literature, cohort, and gnomAD – 1 1 0 –
Variant features alone – 15 9 1 –

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.

Previously observed variants near T432A.
Neighbour residue Distance (Å) Observed variants
432 0 T432I, T432A,
431 4 V431L, V431L,
433 4 P433A,
430 5
434 5 G434R, G434R,
429 7 N429S,
435 7
428 8 D428G,
436 8
427 8
437 8 M437V,
426 9
438 9
425 10 L425V,
439 10
424 11 K424T,
440 11
423 11
441 11 P441S,
422 12 K422T, K422R,
442 12 H442R,
421 13 K421N, K421N,
443 13
420 13 K420E, K420N, K420N,
444 13 T444M, T444K
419 14
445 14
418 14 V418I,
446 14 D446E, D446E, D446E, D446E, D446N,
417 15 V417M,
447 15 P447H,