KCNQ1 Variant K467R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 K467R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

9%

0/11 effective observations

Total carriers

1

0 LQT1 · 1 unaffected

Functional studies

0

Publications with functional data

K467R is present in 1 alleles in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.16 0.005 -1 0.611 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 10 0 –

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 K467R.
Neighbour residue Distance (Å) Observed variants
467 0 K467R,
466 4
468 4 S468G, S468N,
465 5
469 5
464 7 S464P,
470 7
463 8 S463T,
471 8
462 8 D462N
472 8 L472P,
461 9
473 9 E473Q,
460 10 G460S, G460D, G460C,
474 10
459 11 D459N, D459V,
475 11
458 11
476 11 M476L, M476L, M476V,
457 12
477 12 P477L, P477T,
456 13 F456L, F456L, F456L,
478 13 H478Y,
455 13 H455Y, H455Q, H455Q, H455R,
479 13 F479L, F479L, F479L,
454 14
480 14 M480T,
453 14
481 14
452 15 R452Q, R452W, R452L,
482 15 T482N, T482A, T482S, T482S,