KCNQ1 Variant R507W

Summary of observed carriers, functional annotations, and structural context for KCNQ1 R507W. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

10%

1/12 effective observations

Total carriers

0 LQT1 · 2 unaffected

Functional studies

Publications with functional data

R507W is present in 2 alleles 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 (%)
-2.51	0.999	-4	0.736	2

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	–	2	2	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 R507W.
Neighbour residue	Distance (Å)	Observed variants
507	0	R507Q, R507W,
506	4
508	4	E508G,
505	5	Q505R,
509	5	H509Q, H509Q, H509R,
504	7
510	7	H510R, H510Y,
503	8
511	8	R511Q, R511W,
502	8
512	8
501	9	T501A,
513	9	T513A, T513S, T513S
500	10	I500L, I500V,
514	10	I514T,
499	11	P499S,
515	11
498	11
516	11
497	12	L497P,
517	12	I517T,
496	13
518	13	R518Q, R518G,
495	13	T495S, T495S, T495A,
519	13	R519H, R519C,
494	14
520	14	M520R,
493	14	G493A,
521	14
492	15	L492ins,
522	15	Y522S,