SCN5A Variant H350Q
Summary of observed carriers, functional annotations, and structural context for SCN5A H350Q. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
5%
0/11 effective observations
Estimated BrS1 penetrance
28%
3/11 effective observations
Total carriers
1
0 BrS1 · 0 LQT3 · 1 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 0 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| -3.63 | 0.999 | -0.33 | 0.738 | 41 | 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 | 12 | 0 | 3 | – | – |
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 |
|---|---|---|
| 364 | 13 | |
| 277 | 14 | |
| 901 | 8 | E901K, S901L, |
| 919 | 15 | |
| 870 | 13 | |
| 276 | 13 | L276P, L276Q, |
| 363 | 12 | |
| 348 | 7 | P348A, |
| 360 | 11 | |
| 279 | 15 | |
| 372 | 14 | |
| 356 | 15 | D356N, |
| 904 | 5 | W904X, |
| 376 | 11 | R376C, R376H, |
| 871 | 9 | |
| 354 | 11 | |
| 909 | 10 | |
| 868 | 14 | c.2602delC, L868X, |
| 902 | 10 | |
| 349 | 5 | D349N, |
| 373 | 13 | |
| 911 | 12 | G911E, |
| 325 | 15 | L325R, |
| 900 | 9 | |
| 324 | 15 | |
| 321 | 14 | S321Y, |
| 872 | 9 | D872N, |
| 345 | 13 | |
| 865 | 14 | |
| 916 | 14 | |
| 912 | 11 | Q912R, |
| 323 | 13 | |
| 347 | 8 | |
| 906 | 10 | |
| 351 | 5 | G351D, G351V, G351S, G351C, |
| 874 | 14 | G874D, |
| 910 | 13 | S910L, |
| 878 | 15 | R878L, R878C, R878H, |
| 350 | 0 | H350Q, H350Q, |
| 903 | 9 | p.M903CfsX29, |
| 367 | 12 | R367C, R367L, R367H, |
| 346 | 10 | E346G, E346K, E346D, E346X, E346D, |
| 877 | 13 | |
| 322 | 11 | |
| 905 | 7 | |
| 352 | 6 | Y352C, |
| 915 | 13 | C915R, |
| 899 | 13 | |
| 380 | 13 | |
| 377 | 13 | |
| 908 | 6 | |
| 873 | 13 | S873A, |
| 353 | 8 | T353I, |
| 907 | 8 |