KCNQ1 Variant S95G

Summary of observed carriers, functional annotations, and structural context for KCNQ1 S95G. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT1 penetrance

57%

6/11 effective observations

Total carriers

1

1 LQT1 · 0 unaffected

Functional studies

0

Publications with functional data

S95G has not been reported in gnomAD. This residue resides in a Hotspot region for LQT1.

Variant features alone are equivalent to phenotyping 5 individuals with LQT1 and 5 unaffected individuals.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density LQT1 (%)
-0.66 0.007 0 0.528 60

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
27041096 2016 1 None 1 None
Literature, cohort, and gnomAD – 1 0 1 –
Variant features alone – 15 5 5 –

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 S95G.
Neighbour residue Distance (Å) Observed variants
95 0 S95G,
94 4
96 4 T96R,
93 5 I93V,
97 5
92 7 S92P,
98 7 R98H,
91 8 V91L
99 8 P99R, P99Q,
90 8
100 8
89 9 P89T, P89L,
101 9
88 10 D88E, D88E,
102 10
87 11
103 11
86 11 S86R, S86R, S86R,
104 11 T104A, T104I,
85 12
105 12
84 13
106 13
83 13
107 13 Q107H, Q107H,
82 14
108 14 G108S,
81 14 P81L,
109 14 R109C, R109L,
80 15
110 15 V110I,