KCNQ1 Variant E633V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 E633V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

15%

1/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

E633V has not been reported in gnomAD. This residue resides in a Mild_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 (%)
-0.41	0.032	-2	0.567	13

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 E633V.
Neighbour residue	Distance (Å)	Observed variants
633	0
632	4
634	4
631	5	P631R,
635	5	G635R, G635R,
630	7	P630S, P630T,
636	7
629	8	G629S,
637	8
628	8	G628S, G628D,
638	8
627	9
639	9
626	10	G626S,
640	10	Q640L,
625	11	P625R,
641	11	P641L,
624	11
642	11
623	12
643	12	G643S,
622	13	G622S,
644	13
621	13	G621S, G621C, G621D,
645	13
620	14
646	14	G646S
619	14	L619M,
647	14
618	15
648	15	V648I,