In Silico Data
SCN5A Variant W1684R Detail
In Silico Data
PROVEAN | PolyPhen-2 | BLAST-PSSM | REVEL | Penetrance Density BrS (%) | Penetrance Density LQT3 (%) |
---|---|---|---|---|---|
0.2 | 0.117 | 0.57 | 0.562 | 9 | 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 | - | - |
W1684R has 38 previously observed neighbors within 15 angstroms
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|
Neighbor | Distance (Angstroms) | Variants Observed in Individuals |
---|---|---|
324 | 13 | |
326 | 15 | |
333 | 13 | c.998+5G>A, c.998+1G>A, |
334 | 14 | c.999-424_1338+81del, |
336 | 14 | P336L, |
379 | 13 | |
383 | 12 | |
1679 | 14 | |
1680 | 12 | A1680T, A1680P, |
1681 | 11 | Y1681F, c.5040_5042delTTAinsC, |
1682 | 9 | |
1683 | 7 | |
1684 | 0 | W1684R, |
1685 | 6 | |
1686 | 8 | |
1687 | 8 | |
1688 | 5 | |
1689 | 6 | D1689N, |
1690 | 5 | D1690N, c.5068_5070delGA, |
1691 | 10 | |
1692 | 10 | |
1693 | 9 | |
1694 | 12 | |
1695 | 11 | Q1695X, |
1699 | 13 | |
1703 | 14 | |
1715 | 12 | |
1716 | 12 | p.L1716SfsX71, |
1717 | 15 | L1717P, |
1718 | 12 | S1718R, |
1719 | 9 | |
1720 | 12 | c.5157delC, |
1721 | 15 | |
1739 | 12 | R1739Q, R1739W, |
1740 | 13 | G1740R, |
1741 | 10 | D1741Y, D1741N, D1741E, |
1742 | 14 | |
1743 | 13 | G1743E, G1743R, |