KCNQ1 Variant D611E

Summary of observed carriers, functional annotations, and structural context for KCNQ1 D611E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

23%

2/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

D611E has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 2 individuals with LQT1 and 8 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density LQT1 (%)
0.18	0.004	1	0.565	26

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	8	2	–

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 D611E.
Neighbour residue	Distance (Å)	Observed variants
611	0	D611N, D611Y,
610	4
612	4
609	5
613	5
608	7
614	7	H614del,
607	8	A607T,
615	8
606	8
616	8
605	9
617	9
604	10
618	10
603	11
619	11	L619M,
602	11
620	11
601	12
621	12	G621S, G621C, G621D,
600	13	T600M,
622	13	G622S,
599	13
623	13
598	14	K598R,
624	14
597	14
625	14	P625R
596	15	E596del, E596K,
626	15	G626S,