KCNQ1 Variant G57R

Summary of observed carriers, functional annotations, and structural context for KCNQ1 G57R. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

74%

7/10 effective observations

Total carriers

0

0 LQT1 · 0 unaffected

Functional studies

1

Publications with functional data

G57R 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 (%)
-0.35 0.987 -2 0.389 84

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.

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 G57R.
Neighbour residue Distance (Å) Observed variants
57 0 G57V,
56 4
58 4 A58P,
55 5 A55V,
59 5
54 7 I54ins,
60 7
53 8
61 8 P61T,
52 8
62 8 A62V,
51 9
63 9
50 10
64 10 P64del,
49 11
65 11 A65V,
48 11
66 11 S66Y, S66F
47 12
67 12 P67L,
46 13 A46T, A46E,
68 13
45 13
69 13
44 14
70 14
43 14
71 14 A71T, A71S, A71V,
42 15
72 15