SCN5A Variant L771V
Summary of observed carriers, functional annotations, and structural context for SCN5A L771V. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
52%
3/11 effective observations
Estimated BrS1 penetrance
16%
1/11 effective observations
Total carriers
1
0 BrS1 · 1 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 1 individuals for Brugada syndrome and 2 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -1.63 | 0.978 | -2.31 | 0.779 | 18 | 62 |
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 |
|---|---|---|---|---|---|---|---|
| 26940925 | 2016 | 1 | 1 | 0 | 0 | ||
| Literature, cohort, and gnomAD | – | 1 | 0 | 1 | 0 | – | |
| Variant features alone | – | 15 | 12 | 2 | 1 | – | – |
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.
| PubMed ID | Year | Cell Type | Peak Current (% WT) | V1/2 Activation (mV) | V1/2 Inactivation (mV) | Late/Persistent Current (% WT) |
|---|---|---|---|---|---|---|
| 26940925 | 2016 |
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 |
|---|---|---|
| 719 | 13 | |
| 710 | 9 | |
| 766 | 10 | |
| 715 | 10 | M715I, M715T, |
| 713 | 11 | |
| 712 | 11 | |
| 762 | 13 | |
| 774 | 10 | Y774D, c.2320delT, Y774C, p.Y774TfsX28, |
| 763 | 12 | E763K, E763D |
| 778 | 10 | |
| 767 | 6 | |
| 772 | 5 | D772N, |
| 770 | 4 | |
| 781 | 14 | W781X, |
| 775 | 7 | |
| 771 | 0 | L771V, |
| 720 | 13 | |
| 785 | 13 | D785N, |
| 783 | 13 | I783T, |
| 769 | 7 | |
| 773 | 7 | P773S, |
| 714 | 7 | V714D, V714A, |
| 780 | 13 | |
| 776 | 6 | p.Y776del, |
| 768 | 6 | |
| 765 | 10 | |
| 786 | 13 | |
| 711 | 7 | |
| 779 | 10 | Q779X, Q779K, |
| 764 | 10 | M764R, M764K, |
| 777 | 9 | F777L, |
| 782 | 9 | N782T, |
| 716 | 13 |