KCNQ1 Variant E487V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E487V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

0/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

E487V has not been reported 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 (%)
-2.62	0.131	-3	0.734	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	–	0	0	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 E487V.
Neighbour residue	Distance (Å)	Observed variants
487	0	E487K,
486	4	A486T,
488	4	D488E, D488E,
485	5	F485S,
489	5
484	7
490	7
483	8
491	8
482	8	T482N, T482A, T482S, T482S,
492	8	L492ins,
481	9
493	9	G493A,
480	10	M480T,
494	10
479	11	F479L, F479L, F479L,
495	11	T495S, T495S, T495A
478	11	H478Y,
496	11
477	12	P477L, P477T,
497	12	L497P,
476	13	M476L, M476L, M476V,
498	13
475	13
499	13	P499S,
474	14
500	14	I500L, I500V,
473	14	E473Q,
501	14	T501A,
472	15	L472P,
502	15