SCN5A Variant N144I

Summary of observed carriers, functional annotations, and structural context for SCN5A N144I. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

0/10 effective observations

Estimated BrS1 penetrance

14%

1/10 effective observations

Total carriers

0

0 BrS1 · 0 LQT3 · 0 unaffected

N144I has not been reported in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Non_Hotspot region for LQT3.

Variant features alone are equivalent to phenotyping 1 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 0.936 10 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 14 0 1 – –

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 N144I.
Neighbour residue Distance (Å) Observed variants
848 13 I848F,
223 8 V223L,
856 14 V856L, V856L,
859 14
153 15
149 9
147 5
164 6 F164L, F164L, F164L,
228 12 K228R,
138 10 M138I, M138I, M138I,
227 12 L227P,
171 14
143 5
137 11 I137V,
142 7
156 14 W156R, W156R, W156X,
158 13 K158T,
197 14
229 11
163 11 c.486delC,
851 10 c.2550_2551dupGT, F851L, p.F851CfsX19, c.2552_2553dupGT, F851L, F851L,
221 14
196 15
169 15
852 12
854 14 c.2559delT,
222 8 R222X, R222Q, R222L,
224 11 L224F,
155 14
150 10
157 11 T157I,
160 9 p.V160fs,
226 8 A226G, A226V,
166 13 A166T,
858 13 M858L, M858L
144 0
855 11
139 10 p.I137_C139dup,
148 5
165 10
884 13
204 12 A204T, c.611+1G>A, c.611+3_611+4dupAA, A204V,
162 13 Y162H, Y162C,
146 6 V146M, V146A,
203 15
208 15 E208K,
136 13 L136P,
168 9
152 14 D152N,
141 6 I141V, I141N,
167 11
161 8 E161K, E161Q,
201 13
219 12 p.R219HfsX11, R219C, c.656_657insATTCA, R219H,
225 8 R225W, R225Q,
151 9
159 13 Y159C, Y159X,
207 14
200 12
145 4
140 7
220 14 T220I,