SCN5A Variant R1023H
Summary of observed carriers, functional annotations, and structural context for SCN5A R1023H. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
0%
0/86 effective observations
Estimated BrS1 penetrance
5%
3/86 effective observations
Total carriers
76
3 BrS1 · 0 LQT3 · 73 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 (%) |
---|---|---|---|---|---|
0.56 | 0.009 | -0.26 | 0.47 | 2 | 3 |
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 |
---|---|---|---|---|---|---|---|
16344400 | 2005 | 1 | 0 | 1 | 0 | ||
23321620 | 2013 | 1 | 0 | 1 | 0 | ||
26921764 | 2016 | 1 | 0 | 1 | 0 | ||
26746457 | 2016 | 1 | 0 | 0 | 0 | ||
Literature, cohort, and gnomAD | – | 76 | 73 | 0 | 3 | – | |
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 |
---|---|---|
1008 | 15 | P1008S, |
1009 | 14 | |
1010 | 14 | |
1011 | 13 | P1011L, P1011S, |
1012 | 13 | |
1013 | 12 | |
1014 | 11 | P1014S, |
1015 | 11 | p.G1015DfsX14, E1015K, |
1016 | 10 | c.3045_3046delGA, T1016M, |
1017 | 9 | |
1018 | 8 | K1018E, |
1019 | 8 | |
1020 | 7 | |
1021 | 5 | P1021S, |
1022 | 4 | |
1023 | 0 | R1023H, R1023P, R1023C, |
1024 | 4 | K1024R, |
1025 | 5 | E1025A, |
1026 | 7 | |
1027 | 8 | R1027P, R1027Q, R1027W, |
1028 | 8 | |
1029 | 9 | E1029K, |
1030 | 10 | |
1031 | 11 | p.G1031fsX27, |
1032 | 11 | E1032D, E1032D, E1032K, |
1033 | 12 | Q1033R, |
1034 | 13 | P1034T, |
1035 | 13 | G1035V, |
1036 | 14 | |
1037 | 14 | |
1038 | 15 |