KCNQ1 Variant G626R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G626R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

29%

2/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

G626R 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 (%)
-0.33	0.019	-1	0.591	35

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 G626R.
Neighbour residue	Distance (Å)	Observed variants
626	0	G626S,
625	4	P625R,
627	4
624	5
628	5	G628S, G628D,
623	7
629	7	G629S,
622	8	G622S,
630	8	P630S, P630T,
621	8	G621S, G621C, G621D,
631	8	P631R,
620	9
632	9
619	10	L619M,
633	10
618	11
634	11
617	11
635	11	G635R, G635R,
616	12
636	12
615	13
637	13
614	13	H614del,
638	13
613	14
639	14
612	14
640	14	Q640L
611	15	D611N, D611Y,
641	15	P641L,