KCNQ1 Variant K424T

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K424T. 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

K424T 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 (%)
-2.6 0.215 0 0.691 6

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 K424T.
Neighbour residue Distance (Å) Observed variants
424 0 K424T,
423 4
425 4 L425V,
422 5 K422T, K422R,
426 5
421 7 K421N, K421N,
427 7
420 8 K420E, K420N, K420N,
428 8 D428G,
419 8
429 8 N429S,
418 9 V418I,
430 9
417 10 V417M,
431 10 V431L, V431L,
416 11 V416M,
432 11 T432I, T432A
415 11
433 11 P433A,
414 12
434 12 G434R, G434R,
413 13 K413R,
435 13
412 13 P412S,
436 13
411 14
437 14 M437V,
410 14
438 14
409 15
439 15