KCNQ1 Variant A31S

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A31S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

16%

1/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A31S has not been reported 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 (%)
-0.04	0.0	0	0.28	9

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	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 A31S.
Neighbour residue	Distance (Å)	Observed variants
31	0
30	4
32	4
29	5
33	5
28	7
34	7
27	8
35	8
26	8
36	8
25	9
37	9
24	10
38	10
23	11
39	11
22	11	G22R,
40	11
21	12	P21S
41	12
20	13
42	13
19	13
43	13
18	14
44	14
17	14
45	14
16	15
46	15	A46T, A46E,