KCNQ1 Variant K413R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K413R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

9%

1/12 effective observations

Total carriers

2

0 LQT1 · 2 unaffected

Functional studies

0

Publications with functional data

K413R is present in 2 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 (%)
-0.98 0.093 1 0.61 4

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 – 2 2 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 K413R.
Neighbour residue Distance (Å) Observed variants
413 0 K413R,
412 4 P412S
414 4
411 5
415 5
410 7
416 7 V416M,
409 8
417 8 V417M,
408 8 P408A,
418 8 V418I,
407 9
419 9
406 10
420 10 K420E, K420N, K420N,
405 11
421 11 K421N, K421N,
404 11
422 11 K422T, K422R,
403 12 H403P,
423 12
402 13
424 13 K424T,
401 13 R401W, R401Q,
425 13 L425V,
400 14
426 14
399 14 A399S, A399V, A399G,
427 14
398 15 K398R,
428 15 D428G,