SCN5A Variant D1041G
Summary of observed carriers, functional annotations, and structural context for SCN5A D1041G. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
8%
0/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 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 (%) |
---|---|---|---|---|---|
-1.66 | 0.581 | 0.46 | 0.465 | 3 | 2 |
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 |
---|---|---|---|---|---|---|---|
Literature, cohort, and gnomAD | – | 1 | 1 | 0 | 0 | – | |
Variant features alone | – | 15 | 15 | 0 | 0 | – | – |
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.
Neighbour residue | Distance (Å) | Observed variants |
---|---|---|
1026 | 15 | |
1027 | 14 | R1027P, R1027Q, R1027W, |
1028 | 14 | |
1029 | 13 | E1029K, |
1030 | 13 | |
1031 | 12 | p.G1031fsX27, |
1032 | 11 | E1032D, E1032D, E1032K, |
1033 | 11 | Q1033R, |
1034 | 10 | P1034T, |
1035 | 9 | G1035V, |
1036 | 8 | |
1037 | 8 | |
1038 | 7 | |
1039 | 5 | |
1040 | 4 | G1040R, G1040R, |
1041 | 0 | D1041N, D1041G, |
1042 | 4 | |
1043 | 5 | E1043K, |
1044 | 7 | |
1045 | 8 | V1045M, |
1046 | 8 | |
1047 | 9 | c.3140_3141dupTG, |
1048 | 10 | c.3142_3143insTG, p.P1048SfsX96, P1048S, |
1049 | 11 | |
1050 | 11 | p.A1050DfsX9, A1050T, p.A1050CfsX9, |
1051 | 12 | V1051A, |
1052 | 13 | A1052D, p.A1052CfsX7 |
1053 | 13 | E1053K, |
1054 | 14 | |
1055 | 14 | D1055G, |
1056 | 15 | T1056A, |