SCN5A Variant L395R
Summary of observed carriers, functional annotations, and structural context for SCN5A L395R. Data combine curated literature, international cohorts, and gnomAD observations.
Estimated LQT3 penetrance
22%
1/10 effective observations
Estimated BrS1 penetrance
40%
3/10 effective observations
Total carriers
0
0 BrS1 · 0 LQT3 · 0 unaffected
Variant features alone are equivalent to phenotyping 3 individuals for Brugada syndrome and 1 individuals for LQT3.
In silico predictors
| PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
|---|---|---|---|---|---|
| NA | NA | NA | 0.965 | 56 | 26 |
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 | – | 0 | 0 | 0 | 0 | – | |
| Variant features alone | – | 15 | 11 | 1 | 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 |
|---|---|---|
| 403 | 11 | |
| 364 | 14 | |
| 271 | 12 | L271V, |
| 266 | 13 | L266H, |
| 404 | 13 | L404V, L404Q, |
| 1627 | 12 | |
| 396 | 5 | V396L, V396A, |
| 1624 | 11 | V1624I, |
| 355 | 14 | F355I, F355C, |
| 391 | 6 | |
| 388 | 12 | I388S, |
| 401 | 11 | S401P, |
| 371 | 13 | Q371E, |
| 260 | 11 | |
| 365 | 11 | |
| 386 | 15 | G386R, G386R, G386E, |
| 369 | 11 | M369K, |
| 1767 | 14 | Y1767C |
| 378 | 13 | |
| 1654 | 13 | |
| 402 | 11 | F402L, F402L, F402L, |
| 1630 | 15 | I1630V, I1630R, |
| 267 | 9 | |
| 1625 | 14 | |
| 262 | 13 | S262G, |
| 399 | 5 | |
| 272 | 13 | |
| 397 | 7 | I397V, I397F, I397T, |
| 1657 | 14 | |
| 261 | 12 | |
| 1709 | 15 | p.T1709del, T1709R, T1709M, |
| 1628 | 12 | |
| 392 | 6 | |
| 389 | 11 | Y389H, Y389X, |
| 1620 | 15 | T1620K, T1620M, |
| 395 | 0 | |
| 393 | 8 | |
| 390 | 9 | |
| 394 | 5 | |
| 264 | 7 | |
| 259 | 14 | |
| 382 | 15 | |
| 265 | 12 | A265V, |
| 374 | 13 | W374G, |
| 1705 | 12 | |
| 263 | 10 | V263I, |
| 1661 | 13 | G1661R, G1661R, G1661E, |
| 381 | 14 | c.1140+1G>A, c.1141-3C>A, |
| 368 | 10 | |
| 1631 | 14 | G1631D, |
| 268 | 11 | G268S, |
| 377 | 15 | |
| 398 | 7 | |
| 257 | 15 | |
| 400 | 8 | G400R, G400R, G400E, G400A, |
| 1621 | 14 | |
| 1664 | 14 | |
| 1658 | 12 |