KCNQ1 Variant A52V

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A52V. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

21%

2/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A52V 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 (%)
-0.65	0.403	0	0.48	22

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 A52V.
Neighbour residue	Distance (Å)	Observed variants
52	0
51	4
53	4
50	5
54	5	I54ins,
49	7
55	7	A55V,
48	8
56	8
47	8
57	8	G57V,
46	9	A46T, A46E,
58	9	A58P,
45	10
59	10
44	11
60	11
43	11
61	11	P61T,
42	12
62	12	A62V,
41	13
63	13
40	13
64	13	P64del,
39	14
65	14	A65V,
38	14
66	14	S66Y, S66F
37	15
67	15	P67L,