SCN5A Variant F188S

Summary of observed carriers, functional annotations, and structural context for SCN5A F188S. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

5%

0/10 effective observations

Estimated BrS1 penetrance

22%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

F188S has not been reported in gnomAD. This residue resides in a Mild_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 2 individuals for Brugada syndrome and 0 individuals for LQT3.

In silico predictors

Variant-level computational predictors.
PROVEAN PolyPhen-2 BLAST-PSSM REVEL Penetrance Density BrS (%) Penetrance Density LQT3 (%)
NA NA NA 0.987 24 2

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
Literature, cohort, and gnomAD – 0 0 0 0 –
Variant features alone – 15 13 0 2 – –

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 F188S.
Neighbour residue Distance (Å) Observed variants
121 14 R121W, R121Q,
198 6
124 14 A124D,
193 11 W193R, W193R, W193X,
195 10
114 12
170 15 F170I,
184 6 H184R,
228 14 K228R,
183 10
171 11
197 9
113 12 V113A, V113I,
129 15
196 11
190 9 R190L, R190W, R190Q, R190G,
169 14
177 11 L177P,
189 6
125 13 V125L, V125L,
174 11 V174I,
182 10 C182R, C182Y,
191 7
179 8 R179Q, R179X,
172 9
185 5 A185T, A185V,
199 11 S199T,
112 14 Y112C
180 7 G180V,
192 10
175 7 K175N, K175N,
202 13 I202T,
194 5
188 0
178 9 A178G,
128 12 c.381dupT,
201 13
225 14 R225W, R225Q,
181 11
176 7
186 8
173 11
200 14
187 5 T187I, T187S, T187S,