KCNQ1 Variant A486P

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A486P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

10%

0/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A486P has not been reported in gnomAD. This residue resides in a Non_Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 0 individuals with LQT1 and 10 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density LQT1 (%)
-1.93	0.981	3	0.691	1

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	10	0	–

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 A486P.
Neighbour residue	Distance (Å)	Observed variants
486	0	A486T,
485	4	F485S,
487	4	E487K,
484	5
488	5	D488E, D488E,
483	7
489	7
482	8	T482N, T482A, T482S, T482S,
490	8
481	8
491	8
480	9	M480T,
492	9	L492ins,
479	10	F479L, F479L, F479L,
493	10	G493A,
478	11	H478Y,
494	11
477	11	P477L, P477T,
495	11	T495S, T495S, T495A
476	12	M476L, M476L, M476V,
496	12
475	13
497	13	L497P,
474	13
498	13
473	14	E473Q,
499	14	P499S,
472	14	L472P,
500	14	I500L, I500V,
471	15
501	15	T501A,