SCN5A Variant R1638Q
Summary of observed carriers, functional annotations, and structural context for SCN5A R1638Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
4%
0/12 effective observations
Estimated BrS1 penetrance
8%
0/12 effective observations
Total carriers
2
0 BrS1 · 0 LQT3 · 2 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 (%) |
|---|---|---|---|---|---|
| -2.18 | 1 | 0.13 | 0.785 | 7 | 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 |
|---|---|---|---|---|---|---|---|
| Literature, cohort, and gnomAD | – | 2 | 2 | 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 |
|---|---|---|
| 1794 | 14 | |
| 1643 | 11 | I1643L, |
| 1795 | 15 | Y1795N, Y1795H, p.Y1795_E1796insD, Y1795C, |
| 1531 | 12 | |
| 1635 | 8 | |
| 1634 | 10 | L1634P, |
| 1820 | 14 | A1820T, A1820V, |
| 1641 | 8 | |
| 1639 | 6 | G1639A, |
| 1787 | 12 | S1787N, |
| 1648 | 12 | |
| 1532 | 13 | V1532I, V1532F, |
| 1821 | 14 | |
| 1644 | 6 | R1644C, R1644H, R1644L, |
| 1640 | 9 | |
| 1797 | 12 | I1797V, |
| 1800 | 14 | |
| 1793 | 8 | M1793K, |
| 1789 | 7 | |
| 1632 | 14 | R1632C, R1632H, R1632L, |
| 1645 | 11 | T1645M, |
| 1796 | 9 | |
| 1535 | 14 | |
| 1799 | 15 | |
| 1788 | 12 | c.5361_5364delTGAG, |
| 1638 | 0 | R1638X, R1638Q, |
| 1651 | 14 | |
| 1633 | 11 | |
| 1791 | 14 | |
| 1637 | 6 | |
| 1792 | 9 | D1792N, D1792Y, D1792V, |
| 1636 | 7 | |
| 1823 | 14 | E1823K, p.E1823HfsX10 |
| 1642 | 11 | G1642E, |
| 1528 | 11 | |
| 1790 | 11 | D1790N, D1790G, p.D1790del, |
| 1631 | 14 | G1631D, |
| 252 | 15 | |
| 1647 | 11 | |
| 1822 | 11 | c.5464_5467delTCTG, c.5464-5467delTCTG, |
| 1646 | 14 |