SCN5A Variant T140P

Summary of observed carriers, functional annotations, and structural context for SCN5A T140P. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

24%

2/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

T140P 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 0.959 28 0

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 T140P.
Neighbour residue Distance (Å) Observed variants
223 13 V223L,
231 14 c.692_693delCA,
149 15
147 10
131 14
164 6 F164L, F164L, F164L,
170 12 F170I,
228 11 K228R,
138 7 M138I, M138I, M138I,
227 14 L227P,
171 10
143 5
137 5 I137V,
142 7
197 13
229 11
163 9 c.486delC,
169 12
222 12 R222X, R222Q, R222L,
224 15 L224F,
150 15
232 13 V232I, V232F
133 10
157 15 T157I,
132 12 c.393-5C>A,
160 10 p.V160fs,
134 11 N134S,
226 11 A226G, A226V,
166 10 A166T,
144 7
172 14
139 5 p.I137_C139dup,
148 12
165 10
204 14 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 14 Y162H, Y162C,
146 10 V146M, V146A,
136 7 L136P,
168 7
175 15 K175N, K175N,
141 5 I141V, I141N,
135 10 M135V,
167 7
161 12 E161K, E161Q,
201 13
225 9 R225W, R225Q,
159 14 Y159C, Y159X,
200 14
145 9
140 0