SCN5A Variant R1116Q
Summary of observed carriers, functional annotations, and structural context for SCN5A R1116Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
1/31 effective observations
Estimated BrS1 penetrance
0%
0/31 effective observations
Total carriers
21
0 BrS1 · 1 LQT3 · 20 unaffected
Variant features alone are equivalent to phenotyping 0 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-0.15 | 0 | 2.24 | 0.351 | 1 | 6 |
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
Source | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
23631430 | 2013 | 1 | 1 | 0 | 0 | ||
23571586 | 2013 | 1 | 0 | 0 | 1 | stillbirth, SUDS | |
Literature, cohort, and gnomAD | – | 21 | 20 | 1 | 0 | – | |
Variant features alone | – | 15 | 15 | 0 | 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.
Nearby variants
Neighbouring residues within 15 Ångström provide structural context. Variants listed in the right-most column have been observed clinically or in gnomAD.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
1101 | 15 | |
1102 | 14 | A1102T, |
1103 | 14 | S1103F, S1103Y, |
1104 | 13 | |
1105 | 13 | E1105V, E1105X, |
1106 | 12 | A1106T, |
1107 | 11 | E1107X, E1107K, p.E1107RfsX24, |
1108 | 11 | |
1109 | 10 | S1109G, |
1110 | 9 | |
1111 | 8 | |
1112 | 8 | Q1112X, |
1113 | 7 | A1113V, A1113T, |
1114 | 5 | D1114E, D1114E, D1114N, |
1115 | 4 | W1115R, W1115R, W1115X, |
1116 | 0 | R1116Q, R1116W, |
1117 | 4 | |
1118 | 5 | Q1118X, |
1119 | 7 | |
1120 | 8 | |
1121 | 8 | A1121V, |
1122 | 9 | |
1123 | 10 | |
1124 | 11 | |
1125 | 11 | A1125T, A1125G, A1125V, |
1126 | 12 | |
1127 | 13 | |
1128 | 13 | C1128X, |
1129 | 14 | G1129S, |
1130 | 14 | E1130K, |
1131 | 15 | c.3390-1G>A, T1131I, c.3391-1G>A, T1131S, T1131S, |