SCN5A Variant E1107K

Summary of observed carriers, functional annotations, and structural context for SCN5A E1107K. Data combine curated literature, international cohorts, and gnomAD observations.

Estimated LQT3 penetrance

4%

1/44 effective observations

Estimated BrS1 penetrance

1%

0/44 effective observations

Total carriers

34

0 BrS1 · 0 LQT3 · 34 unaffected

E1107K is present in 33 alleles in gnomAD. This residue resides in a Non_Hotspot region for Brugada syndrome and a Mild_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 (%)
-0.74 0.455 1.7 0.544 0 36

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
16453024 2006 1 0 0 1 SIDS
20129283 2010 1 0 0 0
Literature, cohort, and gnomAD – 34 34 0 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)
16453024 2006
20129283 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 E1107K.
Neighbour residue Distance (Å) Observed variants
1092 15
1093 14
1094 14
1095 13 W1095C, W1095X, W1095C,
1096 13 S1096G, S1096C,
1097 12 Q1097H, Q1097H, c.3288+2delT,
1098 11 V1098L, V1098M, V1098L,
1099 11
1100 10 A1100T, A1100V,
1101 9
1102 8 A1102T,
1103 8 S1103F, S1103Y,
1104 7
1105 5 E1105V, E1105X,
1106 4 A1106T,
1107 0 E1107X, E1107K, p.E1107RfsX24,
1108 4
1109 5 S1109G,
1110 7
1111 8
1112 8 Q1112X,
1113 9 A1113V, A1113T,
1114 10 D1114E, D1114E, D1114N,
1115 11 W1115R, W1115R, W1115X,
1116 11 R1116Q, R1116W,
1117 12
1118 13 Q1118X,
1119 13
1120 14
1121 14 A1121V,
1122 15