KCNQ1 Variant A532S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A532S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

38%

3/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A532S 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 (%)
-2.41	0.368	2	0.744	48

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 A532S.
Neighbour residue	Distance (Å)	Observed variants
532	0
367	5	Q367H, Q367H,
533	5	R533W, R533Q,
529	6
530	7
370	7	A370V,
528	8
535	8
371	9	A371T,
369	9
368	9
364	10	F364L, F364L, F364L, F364S,
531	10
525	10	A525T, A525V,
365	10	N365H,
526	11	K526Q, K526E,
534	11
374	12	L374H, L374F,
373	12	S373P,
372	12
524	12	V524G,
540	13
539	13	R539W, R539L, R539Q
527	13
544	13	Q544E,
357	14	Q357H, Q357H,
543	14	E543K,
375	14
358	15	K358T,
536	15