KCNQ1 Variant A607G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A607G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

12%

1/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A607G 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 (%)
0.06	0.0	-2	0.45	5

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 A607G.
Neighbour residue	Distance (Å)	Observed variants
607	0	A607T,
606	4
608	4
605	5
609	5
604	7
610	7
603	8
611	8	D611N, D611Y,
602	8
612	8
601	9
613	9
600	10	T600M,
614	10	H614del,
599	11
615	11
598	11	K598R,
616	11
597	12
617	12
596	13	E596del, E596K,
618	13
595	13	V595L, V595L
619	13	L619M,
594	14	R594Q, R594P,
620	14
593	14	N593S,
621	14	G621S, G621C, G621D,
592	15
622	15	G622S,