KCNQ1 Variant D462N

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D462N. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

11%

1/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

D462N 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 (%)
-1.16 0.038 0 0.494 2

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 – 0 0 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 D462N.
Neighbour residue Distance (Å) Observed variants
462 0 D462N
461 4
463 4 S463T,
460 5 G460S, G460D, G460C,
464 5 S464P,
459 7 D459N, D459V,
465 7
458 8
466 8
457 8
467 8 K467R,
456 9 F456L, F456L, F456L,
468 9 S468G, S468N,
455 10 H455Y, H455Q, H455Q, H455R,
469 10
454 11
470 11
453 11
471 11
452 12 R452Q, R452W, R452L,
472 12 L472P,
451 13 R451Q, R451W,
473 13 E473Q,
450 13 E450K,
474 13
449 14 E449K,
475 14
448 14 P448R, P448Q, P448L, P448S,
476 14 M476L, M476L, M476V,
447 15 P447H,
477 15 P477L, P477T,