KCNQ1 Variant E473Q

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E473Q. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

12%

1/11 effective observations

Total carriers

0 LQT1 · 1 unaffected

Functional studies

Publications with functional data

E473Q 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 (%)
-0.88	0.773	-1	0.634	8

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 E473Q.
Neighbour residue	Distance (Å)	Observed variants
473	0	E473Q,
472	4	L472P,
474	4
471	5
475	5
470	7
476	7	M476L, M476L, M476V,
469	8
477	8	P477L, P477T,
468	8	S468G, S468N,
478	8	H478Y,
467	9	K467R,
479	9	F479L, F479L, F479L,
466	10
480	10	M480T,
465	11
481	11
464	11	S464P,
482	11	T482N, T482A, T482S, T482S,
463	12	S463T,
483	12
462	13	D462N
484	13
461	13
485	13	F485S,
460	14	G460S, G460D, G460C,
486	14	A486T,
459	14	D459N, D459V,
487	14	E487K,
458	15
488	15	D488E, D488E,