KCNQ1 Variant A636P

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A636P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

24%

2/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A636P 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 (%)
-0.62	0.001	4	0.453	25

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 A636P.
Neighbour residue	Distance (Å)	Observed variants
636	0
635	4	G635R, G635R,
637	4
634	5
638	5
633	7
639	7
632	8
640	8	Q640L,
631	8	P631R,
641	8	P641L,
630	9	P630S, P630T,
642	9
629	10	G629S,
643	10	G643S,
628	11	G628S, G628D,
644	11
627	11
645	11
626	12	G626S,
646	12	G646S
625	13	P625R,
647	13
624	13
648	13	V648I,
623	14
649	14	D649N, D649G,
622	14	G622S,
650	14
621	15	G621S, G621C, G621D,
651	15