KCNQ1 Variant G316E

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G316E. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

88%

21/25 effective observations

Total carriers

15

14 LQT1 · 1 unaffected

Functional studies

1

Publications with functional data

G316E 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 (%)
-7.52 1.0 -4 0.972 95

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
32893267 2020 5 None 5 None
30758498 2019 2 None 1 None
21131640 2011 1 None 1 None
20981542 2011 8 1 7 None
19808498 2009 1 None 1 None
17192539 2006 2 None 2 None
16922724 2006 1 None 1 None
Literature, cohort, and gnomAD – 15 1 14 –
Variant features alone – 15 3 7 –

Totals may differ from individual publications due to duplicate patients removed during curation.

Functional data

Functional assay results from published electrophysiology studies. HM indicates homomeric channels, HT indicates heteromeric channels.

Homomeric channel data

Published electrophysiology measurements (homomeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

Heteromeric channel data

Published electrophysiology measurements (heteromeric).
PubMed ID Year Study Type Assay Temperature Cell Type Result

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 G316E.
Neighbour residue Distance (Å) Observed variants
316 7 G316E, G316R, G316R, G316V,
314 8 G314S, G314D, G314C, G314del,
315 10 Y315C, Y315S, Y315N, Y315H, Y315F
319 10 V319L, V319L,
317 10 D317N, D317G, D317Y,
313 12
305 12 W305S, W305L, W305C, W305C, W305R, W305R,
318 13
308 13 V308F,
320 13 P320H, P320A, P320S,
309 14 T309I, T309R,
312 14 T312del, T312I,
321 14
295 15