SCN5A Variant V113I

Summary of observed carriers, functional annotations, and structural context for SCN5A V113I. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

43%

2/11 effective observations

Estimated BrS1 penetrance

4%

0/11 effective observations

Total carriers

1

0 BrS1 · 1 LQT3 · 0 unaffected

V113I has not been reported in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 1 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
0.72 0 3.89 0.573 3 44

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. Penetrance density summarises neighbouring residue risk (Kroncke et al. 2019).

Reported carrier data

Observed carriers by publication or cohort.
Source Year Carriers Unaffected LQT3 BrS1 Other Other Disease
20541041 2010 1 1 0 0
Literature, cohort, and gnomAD – 1 0 1 0 –
Variant features alone – 15 14 1 0 – –

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

Functional data

Peak and late/persistent current values are relative to wild-type (100% indicates no change). V1/2 activation and inactivation denote the membrane potentials (mV) at which half-maximal current is achieved.

Published electrophysiology measurements.
PubMed ID Year Cell Type Peak Current (% WT) V1/2 Activation (mV) V1/2 Inactivation (mV) Late/Persistent Current (% WT)
20541041 2010

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 V113I.
Neighbour residue Distance (Å) Observed variants
113 0 V113I, V113A,
188 12
178 11 A178G,
117 11
179 10 R179X, R179Q,
177 10 L177P,
121 10 R121Q, R121W,
118 11
125 14 V125L,
181 6
176 10
185 10 A185T, A185V,
115 7 S115G,
186 12
182 6 C182Y, C182R,
173 15
112 5 Y112C,
114 4
184 7 H184R,
116 9
187 12 T187S, T187I,
180 6 G180V,
120 15
183 6
122 14