KCNQ1 Variant E494G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E494G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

11%

1/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

E494G has not been reported 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 (%)
-3.94	0.542	-3	0.831	0

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 E494G.
Neighbour residue	Distance (Å)	Observed variants
494	0
493	4	G493A,
495	4	T495S, T495S, T495A
492	5	L492ins,
496	5
491	7
497	7	L497P,
490	8
498	8
489	8
499	8	P499S,
488	9	D488E, D488E,
500	9	I500L, I500V,
487	10	E487K,
501	10	T501A,
486	11	A486T,
502	11
485	11	F485S,
503	11
484	12
504	12
483	13
505	13	Q505R,
482	13	T482N, T482A, T482S, T482S,
506	13
481	14
507	14	R507Q, R507W,
480	14	M480T,
508	14	E508G,
479	15	F479L, F479L, F479L,
509	15	H509Q, H509Q, H509R,