KCNQ1 Variant A590G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A590G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

37%

3/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A590G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 3 individuals with LQT1 and 7 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density LQT1 (%)
-1.85	0.016	5	0.654	46

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	7	3	–

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 A590G.
Neighbour residue	Distance (Å)	Observed variants
590	0	A590T,
589	4	G589D, G589S,
591	4	R591H, R591C, R591L,
588	5	I588F,
592	5
587	7	T587M, T587R,
593	7	N593S,
586	8	N586D,
594	8	R594Q, R594P,
585	8	S585N,
595	8	V595L, V595L
584	9	G584S,
596	9	E596del, E596K,
583	10	R583H, R583C, R583G,
597	10
582	11
598	11	K598R,
581	11
599	11
580	12	S580G, S580N,
600	12	T600M,
579	13
601	13
578	13	E578K, E578V,
602	13
577	14
603	14
576	14	V576I,
604	14
575	15
605	15