SCN5A Variant A1088V
Summary of observed carriers, functional annotations, and structural context for SCN5A A1088V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
2%
0/11 effective observations
Estimated BrS1 penetrance
2%
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 (%) |
|---|---|---|---|---|---|
| -0.38 | 0.025 | -1 | 0.232 | 1 | 1 |
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 |
|---|---|---|
| 1073 | 15 | |
| 1074 | 14 | S1074R, S1074R, S1074R, S1074G, |
| 1075 | 14 | |
| 1076 | 13 | |
| 1077 | 13 | c.3228+2delT, |
| 1078 | 12 | |
| 1079 | 11 | S1079T, S1079F, S1079Y, |
| 1080 | 11 | |
| 1081 | 10 | |
| 1082 | 9 | V1082A, |
| 1083 | 8 | S1083C, |
| 1084 | 8 | G1084S, G1084R, G1084D, |
| 1085 | 7 | |
| 1086 | 5 | |
| 1087 | 4 | |
| 1088 | 0 | A1088T, A1088V, |
| 1089 | 4 | |
| 1090 | 5 | P1090Q, P1090L, |
| 1091 | 7 | D1091A, D1091Y, |
| 1092 | 8 | |
| 1093 | 8 | |
| 1094 | 9 | |
| 1095 | 10 | W1095C, W1095X, W1095C, |
| 1096 | 11 | S1096C, S1096G, |
| 1097 | 11 | c.3288+2delT, Q1097H, Q1097H, |
| 1098 | 12 | V1098L, V1098L, V1098M, |
| 1099 | 13 | |
| 1100 | 13 | A1100V, A1100T |
| 1101 | 14 | |
| 1102 | 14 | A1102T, |
| 1103 | 15 | S1103Y, S1103F, |