KCNQ1 Variant A341G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 A341G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

78%

7/10 effective observations

Total carriers

0 LQT1 · 0 unaffected

Functional studies

Publications with functional data

A341G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 7 individuals with LQT1 and 3 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN	PolyPhen-2	BLAST-PSSM	REVEL	Penetrance Density LQT1 (%)
-3.81	1.0	0	0.903	85

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	3	7	–

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 A341G.
Neighbour residue	Distance (Å)	Observed variants
344	7	A344V, A344E,
341	7	A341V, A341E,
345	9	G345R, G345R, G345A,
343	10	P343S, P343L, P343R,
342	11	L342F, L342P,
348	11
312	11	T312del, T312I,
347	11	L347P, L347R,
338	11	S338F,
337	12
346	12
340	12	F340del, F340L, F340L, F340L, F340S,
311	12	T311A, T311I,
349	13	S349W,
351	14	F351L, F351L, F351L, F351S,
310	14	V310I
339	14	F339del, F339S,
313	14
336	15	A336S,
350	15	G350V, G350R, G350R, G350W,
262	15	L262P, L262R, L262V,