In Silico Data
SCN5A Variant D1689N Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
-4.34 | 0.999 | 4.99 | 0.669 | 28 | 0 |
Reported Carrier Data
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|
PubMed ID | Year | Carriers | Unaffected | LQT3 | BrS1 | Other | Other Disease |
---|---|---|---|---|---|---|---|
LITERATURE, COHORT, AND GNOMAD: | - | 1 | 1 | 0 | 0 | - | |
VARIANT FEATURES ALONE: | - | 15 | 14 | 0 | 1 | - | - |
D1689N has 56 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
280 | 14 | C280Y, |
323 | 13 | |
324 | 9 | |
325 | 11 | L325R, |
326 | 11 | |
327 | 13 | |
329 | 15 | |
330 | 15 | S330F, |
331 | 12 | |
332 | 10 | A332T, |
333 | 8 | c.998+5G>A, c.998+1G>A, |
334 | 10 | c.999-424_1338+81del, |
335 | 13 | C335S, C335R, |
336 | 13 | P336L, |
375 | 12 | |
376 | 12 | R376C, R376H, |
377 | 15 | |
378 | 12 | |
379 | 7 | |
380 | 11 | |
381 | 13 | c.1141-3C>A, c.1140+1G>A, |
382 | 10 | |
383 | 7 | |
384 | 13 | S384T, |
385 | 14 | A385T, |
386 | 13 | G386E, G386R, |
387 | 13 | |
1680 | 15 | A1680T, A1680P, |
1681 | 14 | Y1681F, c.5040_5042delTTAinsC, |
1682 | 12 | |
1683 | 12 | |
1684 | 6 | W1684R, |
1685 | 9 | |
1686 | 9 | |
1687 | 6 | |
1688 | 5 | |
1689 | 0 | D1689N, |
1690 | 5 | D1690N, c.5068_5070delGA, |
1691 | 5 | |
1692 | 5 | |
1693 | 8 | |
1694 | 11 | |
1695 | 11 | Q1695X, |
1696 | 13 | |
1698 | 13 | A1698T, |
1699 | 10 | |
1700 | 13 | |
1702 | 11 | |
1703 | 10 | |
1706 | 12 | Q1706H, |
1712 | 13 | G1712S, G1712C, |
1715 | 11 | |
1716 | 11 | p.L1716SfsX71, |
1718 | 14 | S1718R, |
1719 | 11 | |
1720 | 14 | c.5157delC, |